72 research outputs found
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
- Author
- Adlard L.
- AittomÀki K. (Kristiina)
- Andrulis I.L. (Irene)
- Anton-Culver H. (Hoda)
- Antoniou A.C. (Antonis)
- Arias Pérez J.I. (José Ignacio)
- Arndt V. (Volker)
- Arnold N. (Norbert)
- Asperen C.J. (Christi) van
- Baglietto L. (Laura)
- Balleine R. (Rosemary)
- Bane A.L. (Anita L.)
- Barile M. (Monica)
- Barrowdale D. (Daniel)
- Beckmann M.W. (Matthias)
- BenĂtez J. (Javier)
- Blomqvist C. (Carl)
- Blows F. (Fiona)
- Bogdanova N.V. (Natalia)
- Bojesen S.E. (Stig)
- Bolla M.K. (Manjeet)
- Bonnani B. (Bernardo)
- Borg Ă . (Ă ke)
- Brauch H. (Hiltrud)
- Brenner H. (Hermann)
- Brinton L.A. (Louise)
- Broeks A. (Annegien)
- BrĂŒning T. (Thomas)
- Burwinkel B. (Barbara)
- Caldes T. (Trinidad)
- Capra F. (Fabio)
- Carpenter J. (Jane)
- Chang-Claude J. (Jenny)
- Chanock S.J. (Stephen)
- Chenevix-Trench G. (Georgia)
- Clarke C. (Christine)
- Cole T.J. (Trevor)
- Collée J.M. (Margriet)
- Cornelissen S. (Sten)
- Couch F.J. (Fergus)
- Cox A. (Angela)
- Cross S.S. (Simon)
- Czene K. (Kamila)
- Davidson R. (Rosemarie)
- Devilee P. (Peter)
- Dieffenbach A.K. (Aida Karina)
- Ditsch N. (Nina)
- Domchek S.M. (Susan)
- Dunning A.M. (Alison)
- Durcan L. (Lorraine)
- Durda K. (Katarzyna)
- Dwek M. (Miriam)
- Dörk T. (Thilo)
- Easton D.F. (Douglas)
- Eccles D. (Diana)
- Eeles R. (Rosalind)
- Ekici A.B. (Arif)
- Ellis S.D. (Steve)
- Engel C. (Christoph)
- Evans D.G. (Gareth)
- Factor R.E. (Rachel E.)
- Fasching P.A. (Peter)
- Figueroa J.D. (Jonine)
- Flesch-Janys D. (Dieter)
- Fletcher O. (Olivia)
- Flyger H. (Henrik)
- Fortuzzi S. (S.)
- Frost D. (Debra)
- Garber J. (Judy)
- Giles G.G. (Graham)
- Glendon G. (Gord)
- Godwin A.K. (Andrew)
- Goldgar D. (David)
- GonzĂĄlez-Neira A. (Anna)
- Grip M. (Mervi)
- Gronwald J. (Jacek)
- Hahnen E. (Eric)
- Haiman C.A. (Christopher)
- Hall P. (Per)
- Hamann U. (Ute)
- Hansen T.V.O. (Thomas)
- Hartikainen J.M. (J.)
- Healey S. (Sue)
- HeikkilÀ P. (PÀivi)
- Henderson B.E. (Brian)
- Hillemanns P. (Peter)
- Hooning M.J. (Maartje)
- Izatt L. (Louise)
- Jakubowska A. (Anna)
- Jaworska-Bieniek K. (Katarzyna)
- Jensen U.B.
- John E.M. (Esther)
- Johnson N. (Nichola)
- Jones L. (Louise)
- Joseph V. (Vijai)
- Jukkola-Vuorinen A. (Arja)
- Karlan B.Y. (Beth)
- Kast K. (Karin)
- Kataja V. (Vesa)
- Ko Y-D. (Yon-Dschun)
- Kosma V-M. (Veli-Matti)
- Le Marchand L. (Loic)
- Lindblom A. (Annika)
- Lindor N.M. (Noralane)
- Lissowska J. (Jolanta)
- Lubinski J. (Jan)
- Mannermaa A. (Arto)
- Manoukian S. (Siranoush)
- Margolin S. (Sara)
- Mariette F. (F.)
- Marme F. (Federick)
- Martens J.W.M. (John)
- McGuffog L. (Lesley)
- McLean C.A. (Catriona Ann)
- Meindl A. (Alfons)
- Milne R.L. (Roger)
- Miron A. (Alexander)
- Montagna M. (Marco)
- Mulligan A.M. (Anna Marie)
- Muranen T.A. (Taru)
- Nathanson K.L. (Katherine)
- Neuhausen S.L. (Susan)
- Nevanlinna H. (Heli)
- Niederacher D. (Dieter)
- Nielsen S.F. (Sune)
- Nordestgaard B.G. (BĂžrge)
- Offitt K. (Kenneth)
- Olson J.E. (Janet)
- Osorio A. (Ana)
- Pankratz V.S. (Shane)
- Papi L. (Laura)
- Park-Simon T.-W.
- Parsons M. (Marilyn)
- Pasini B. (Barbara)
- Perkins J. (Jo)
- Peterlongo P. (Paolo)
- Peto J. (Julian)
- Pharoah P.D.P. (Paul)
- Platte R. (Radka)
- Plendl H. (Hansjoerg)
- Preisler-Adams S. (Sabine)
- Provenzano E. (Elena)
- PykÀs K. (Katri)
- Radice P. (Paolo)
- Rantala J. (Johanna)
- Rashid M.U. (Muhammad)
- Rau-Murthy R. (Rohini)
- Rebbeck R. (Timothy)
- Reed M.W.R. (Malcolm)
- Rhiem K. (Kerstin)
- Robson M. (Mark)
- Rudolph A. (Anja)
- RudÌiger T. (Thomas)
- Santos Silva I. (Isabel) dos
- Schmidt M.K. (Marjanka)
- Schmutzler R.K. (Rita)
- Schumacher F.R. (Fredrick)
- Scott R.J. (Rodney)
- Scuvera G. (Giulietta)
- Seibold P. (Petra)
- Seynaeve C.M. (Caroline)
- Slamon D.J. (Dennis)
- Southey M.C. (Melissa)
- Spurdle A.B. (Amanda)
- Stegmaier C. (Christa)
- Steinemann D. (Doris)
- Surovy H. (Harald)
- Sutter C. (Christian)
- Swann R. (Ruth)
- Tapper W. (William)
- Teo S.-H. (Soo-Hwang)
- Terry M.B. (Mary B.)
- Thomassen M. (Mads)
- Tilanus-Linthorst M.M.A. (Madeleine)
- Toland A.E. (Amanda)
- Tollenaar R.A.E.M. (Rob)
- Torres D. (Diana)
- Tung N. (Nadine)
- Ulmer H.U. (Hans)
- Varesco L. (Liliana)
- Varon-Mateeva R. (Raymonda)
- Verhoef S.
- Viel A. (Alessandra)
- Wang Q. (Qing)
- Wang-Gohrke S. (Shan)
- Wapenschmidt B. (Barbara)
- West D. van
- Whittemore A.S. (Alice)
- Winqvist R. (Robert)
- Yang R. (Rongxi)
- Zaffaroni D. (D.)
- Zamora P. (Pilar)
- Ziogas A. (Argyrios)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 23/12/2014
- Field of study
Introduction: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling. Methods: Selection criteria for study/center inclusion were estrogen receptor (ER) status or grade data available for invasive breast cancer diagnosed younger than 70 years. The dataset included 4,477 BRCA1 mutation carriers, 2,565 BRCA2 mutation carriers, and 47,565 BCAC breast cancer cases. Country-stratified estimates of the
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
- Author
- Aalfs Cora M
- Abugattas Julio
- Adlard Julian
- Agata Simona
- AittomÀki Kristiina
- Andrews Lesley
- Andrulis Irene L
- Antoniou Antonis C
- Arason Adalgeir
- Arnold Norbert
- Arun Banu K
- Asseryanis Ella
- Auerbach Leo
- Azzollini Jacopo
- Balmaña Judith
- Barile Monica
- Barkardottir Rosa B
- Barrowdale Daniel
- Benitez Javier
- Berger Andreas
- Berger Raanan
- Blanco Amie M
- Blazer Kathleen R
- Blok Marinus J
- Bonadona Valérie
- Bonanni Bernardo
- Bradbury Angela R
- Brewer Carole
- Buecher Bruno
- Buys Saundra S
- Caldes Trinidad
- Caliebe Almuth
- Caligo Maria A
- Campbell Ian
- Caputo Sandrine M
- Chan TL
- Chenevix-Trench Georgia
- Chiquette Jocelyne
- Chung Wendy K
- Claes Kathleen BM
- Collée J Margriet
- Cook Jackie
- Couch Fergus J
- Davidson Rosemarie
- de la Hoya Miguel
- De Leeneer Kim
- de Pauw Antoine
- Delnatte Capucine
- Diez Orland
- Ding Yuan Chun
- Ditsch Nina
- Domchek Susan M
- Dorfling Cecilia M
- Dworniczak Bernd
- Eason Jacqueline
- Easton Douglas F
- Eeles Ros
- Ehrencrona Hans
- Ejlertsen Bent
- EMBRACE
- Engel Christoph
- Engert Stefanie
- Evans D Gareth
- Faivre Laurence
- FeliubadalĂł Lidia
- Ferrer Sandra Fert
- Foretova Lenka
- Fowler Jeffrey
- Friebel Tara M
- Friedman Eitan
- Frost Debra
- GalvĂŁo Henrique CR
- Ganz Patricia A
- Garber Judy
- Gauthier-Villars Marion
- Gehrig Andrea
- GEMO Study Collaborators
- Gerdes Anne-Marie
- Gesta Paul
- Giannini Giuseppe
- Giraud Sophie
- Glendon Gord
- Godwin Andrew K
- Goldgar David E
- Greene Mark H
- Gronwald Jacek
- Gutierrez-Barrera Angelica
- Hahnen Eric
- Hamann Ute
- Hauke Jan
- HEBON
- Henderson Alex
- Hentschel Julia
- Hogervorst Frans BL
- Honisch Ellen
- Hulick Peter J
- Huo Dezheng
- Hutten Selkirk Christina G
- Imyanitov Evgeny N
- Investigators KConFab
- Isaacs Claudine
- Izatt Louise
- Izquierdo Angel
- Jakubowska Anna
- James Paul
- Janavicius Ramunas
- Jensen Uffe Birk
- John Esther M
- Kaczmarek Katarzyna
- Karlan Beth Y
- Kast Karin
- Kim Sung-Won
- Konstantopoulou Irene
- Korach Jacob
- Kruse Torben A
- Kwong Ava
- Laitman Yael
- Lasa Adriana
- Lasset Christine
- Lee Annette
- Lee Min Hyuk
- Leslie Goska
- Lester Jenny
- Lesueur Fabienne
- Liljegren Annelie
- Lindor Noralane M
- Longy Michel
- Loud Jennifer T
- Lu Karen H
- Lubinski Jan
- LĂĄzaro Conxi
- Machackova Eva
- Manoukian Siranoush
- Mari VĂ©ronique
- MartĂnez-Bouzas Cristina
- Matrai Zoltan
- McGuffog Lesley
- Mebirouk Noura
- Meijers-Heijboer Hanne EJ
- Meindl Alfons
- Mensenkamp Arjen R
- Mickys Ugnius
- Miller Austin
- Montagna Marco
- Moysich Kirsten B
- Mulligan Anna Marie
- Musinsky Jacob
- Nathanson Katherine L
- Neuhausen Susan L
- Nevanlinna Heli
- Ngeow Joanne
- Nguyen Huu Phuc
- Niederacher Dieter
- Nielsen Finn Cilius
- Nielsen Henriette Roed
- Nussbaum Robert L
- Offit Kenneth
- Olah Edith
- Olopade Olufunmilayo I
- Ong Kai-Ren
- Osorio Ana
- Palmero Edenir InĂȘz
- Papi Laura
- Papp Janos
- Park Sue Kyung
- Parsons Michael T
- Pasini Barbara
- Pedersen Inge Sokilde
- Peixoto Ana
- Peruga Nina
- Peterlongo Paolo
- Pohl Esther
- Pradhan Nisha
- Prajzendanc Karolina
- Prieur Fabienne
- Pujol Pascal
- Radice Paolo
- Ramus Susan J
- Rantala Johanna
- Rashid Muhammad Usman
- Rebbeck Timothy R
- Rhiem Kerstin
- Robson Mark
- Rodriguez Gustavo C
- Rogers Mark T
- Rudaitis Vilius
- Schmidt Ane Y
- Schmutzler Rita Katharina
- Senter Leigha
- Shah Payal D
- Sharma Priyanka
- Side Lucy E
- Simard Jacques
- Singer Christian F
- Skytte Anne-Bine
- Slavin Thomas P
- Snape Katie
- Sobol Hagay
- Solano Angela R
- Southey Melissa
- Spurdle Amanda B
- Steele Linda
- Steinemann Doris
- Sukiennicki Grzegorz
- Sutter Christian
- Szabo Csilla I
- Tan Yen Y
- Teixeira Manuel R
- Teo Soo-Hwang
- Terry Mary Beth
- Teulé Alex
- Thomas Abigail
- Thomassen Mads
- Thull Darcy L
- Tischkowitz Marc
- Tognazzo Silvia
- Toland Amanda Ewart
- Topka Sabine
- Torres Diana
- Trainer Alison H
- Tung Nadine
- van Asperen Christi J
- van der Hout Annemieke H
- van der Kolk Lizet E
- van der Luijt Rob B
- Van Heetvelde Mattias
- van Rensburg Elizabeth J
- Varesco Liliana
- Varon-Mateeva Raymonda
- Vega Ana
- Velazquez Carolina
- Vijai Joseph
- Villarreal-Garza Cynthia
- von Wachenfeldt Anna
- Walker Lisa
- Wang-Gohrke Shan
- Wappenschmidt Barbara
- Weber Bernhard HF
- Weitzel Jeffrey N
- Yannoukakos Drakoulis
- Yoon Sook-Yee
- Zanzottera Cristina
- Zidan Jamal
- Zorn Kristin K
- Ăfverholm Anna
- Publication venue
- Hum Mutat
- Publication date
- 01/01/2018
- Field of study
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
- Author
- Aalfs C.M. (Cora)
- Adlard L.
- Agata S. (Simona)
- Andrews L. (Lesley)
- Andrulis I.L. (Irene)
- Antoniou A.C. (Antonis)
- Arason A. (Adalgeir)
- Arnold N. (Norbert)
- Arun B.K. (Banu)
- Arver B. (Brita Wasteson)
- Barjhoux L. (Laure)
- Barrowdale D. (Daniel)
- Barwell J. (Julian)
- BenĂtez J. (Javier)
- Berger A. (Andreas)
- Berger R. (Raanan)
- Blanco I. (Ignacio)
- Bogdanova-Markov N. (Nadja)
- Bojesen A. (Anders)
- Bonadona V. (Valérie)
- Bonnani B. (Bernardo)
- Borg Ă . (Ă ke)
- Brady A. (A.)
- Brewer C. (Carole)
- Buecher B. (Bruno)
- Buys S.S. (Saundra)
- Caldes T. (Trinidad)
- Caligo M.A. (Maria)
- Cass I. (Ilana)
- Caux-Moncoutier V. (Virginie)
- Chenevix-Trench G. (Georgia)
- Claes K.B.M. (Kathleen B.M.)
- Cook J. (Jackie)
- Corines M. (Marina)
- Couch F.J. (Fergus)
- Cunningham J.M. (Julie)
- Cybulski C. (Cezary)
- Daly M.J. (Mark)
- Damiola F. (Francesca)
- Davidson R. (Rosemarie)
- Dennis J. (Joe)
- Deurzen C.H.M. (Carolien) van
- Ditsch N. (Nina)
- Dolcetti R. (Riccardo)
- Domchek S.M. (Susan)
- Donaldson A. (Alan)
- Dorfling C.M. (Cecilia)
- Douglas F. (Fiona)
- Duran M. (Mercedes)
- Durda K. (Katarzyna)
- DĂez O. (Orland)
- Easton D.F. (Douglas)
- Eccles D. (Diana)
- Eeles R. (Ros)
- Ehrencrona H. (Hans)
- Ejlertsen B. (Bent)
- Ellis S.D. (Steve)
- Engel C. (Christoph)
- Evans D.G. (Gareth)
- Faivre L. (Laurence)
- Fink-Retter A. (Anneliese)
- Foo C. (Claire)
- Fostira F. (Florentia)
- Friedman E. (Eitan)
- Frost D. (Debra)
- Garber J. (Judy)
- Gehrig P.A. (Paola A.)
- Gerdes A-M. (Anne-Marie)
- Giannini G. (Giuseppe)
- Glendon G. (Gord)
- Godwin A.K. (Andrew)
- Goldgar D. (David)
- Greene M.H. (Mark)
- Gronwald J. (Jacek)
- Hallberg B. (Boubou)
- Hamann U. (Ute)
- Hander M. (Mary)
- Hart S. (Stewart)
- Hays J. (John)
- Healey S. (Sue)
- Hodgson S. (Shirley)
- Hogervorst F.B.L. (Frans)
- Hout A.H. (Annemarie) van der
- Hoya M. (Miguel) de La
- Imyanitov E.N. (Evgeny)
- Isaacs C. (Claudine)
- Izatt L. (Louise)
- Jacobs L. (Lauren)
- Jakubowska A. (Anna)
- James M. (Margaret)
- Janavicius R. (Ramunas)
- Jaworska-Bieniek K. (Katarzyna)
- Jensen U.B.
- Karlan B.Y. (Beth)
- Kast K. (Karin)
- Kaulich D.G. (Daphne Gschwantler)
- Kennedy M.J. (John)
- Khan S. (Sofia)
- Konstantopoulou I. (I.)
- Kuchenbaecker K.B. (Karoline)
- Laitman Y. (Yael)
- Lange J.L. (J.) de
- Lee A. (Andrew)
- Lefol C. (CĂ©drick)
- Lester K.J. (Kathryn)
- Lincoln A. (Anne)
- Lindor N.M. (Noralane)
- Loman N. (Niklas)
- Longy M. (Michel)
- Lubinski J. (Jan)
- Luijt R.B. (Rob) van der
- LĂĄzaro C. (Conxi)
- Mai P.L. (Phuong)
- Manoukian S. (Siranoush)
- Mariani P. (Paolo)
- Markiefka B. (Birgid)
- Maugard C.
- Mazoyer S. (Sylvie)
- McGuffog L. (Lesley)
- Meijers-Heijboer E.J. (Hanne)
- Meindl A. (Alfons)
- Mensenkamp A.R. (Arjen)
- Menéndez M. (Mireia)
- Montagna M. (Marco)
- Morrison P.J. (Patrick)
- Mulligan A.M. (Anna Marie)
- Nathanson K.L. (Katherine)
- Neuhausen S.L. (Susan)
- Nevanlinna H. (Heli)
- Niederacher D. (Dieter)
- Nielsen F. (Finn)
- Nussbaum R. (Robert)
- Offit K. (Kenneth)
- Olah E.
- Olopade O.I. (Olofunmilayo)
- Olswold C. (Curtis)
- Ong K.
- Osorio A. (Ana)
- Ouweland A.M.W. (Ans) van den
- Overeem Hansen T. (Thomas) van
- Pankratz V.S. (Shane)
- Papi L. (Laura)
- Pedersen I.S. (Inge Sokilde)
- Peissel B. (Bernard)
- Peterlongo P. (Paolo)
- Pfeiler G. (Georg)
- Phelan C. (Catherine)
- Piedmonte M. (Marion)
- Platte R. (Radka)
- Plendl H. (Hansjoerg)
- Porteous M.E. (Mary)
- Prieur F. (Fabienne)
- Radice P. (Paolo)
- Ramus S.J. (Susan)
- Rantala J. (Johanna)
- Rappaport C. (Christine)
- Rebbeck R. (Timothy)
- Rennert G. (Gad)
- Rensburg E.J. (Elizabeth) van
- Rhiem K. (Kerstin)
- Robson M. (Mark)
- Rodriguez G.C. (Gustavo)
- Rogers M.T. (Mark)
- Roozendaal K.E. (Kees) van
- Rouleau E. (Etienne)
- Roversi G. (Gaia)
- Schmidt M.K. (Marjanka)
- Schmutzler R.K. (Rita)
- Scuvera G. (Giulietta)
- Sevenet N. (Nicolas)
- Side L. (Lucy)
- Simard J. (Jacques)
- Singer C.F. (Christian)
- Sinilnikova O. (Olga)
- Slager S. (Susan)
- Soucy P. (Penny)
- Southey M.C. (Melissa)
- Spurdle A.B. (Amanda)
- Steele L. (Linda)
- Steinemann D. (Doris)
- Stoppa-Lyonnet D. (Dominique)
- Sutter C. (Christian)
- Szabo C. (Csilla)
- Tafur I. (Isaac)
- Tea M.-K.
- Teixeira P.J.
- Terry M.B. (Mary Beth)
- Teulé A. (A.)
- Thomassen M. (Mads)
- Tibiletti M.G. (Maria Grazia)
- Tihomirova L. (Laima)
- Tischkowitz M. (Marc)
- Toland A.E. (Amanda)
- Tung N. (Nadine)
- Van Maerken T. (Tom)
- Varesco L. (Liliana)
- Varon-Mateeva R. (Raymonda)
- Vijai J. (Joseph)
- Volorio S. (Sara)
- Walker L.J. (Lisa)
- Wang X. (Xianshu)
- Wang-Gohrke S. (Shan)
- Wapenschmidt B. (Barbara)
- Weitzel J.N. (Jeffrey)
- Wijnen J.T. (Juul)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 31/12/2014
- Field of study
Introduction: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers. Methods: We used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and triple-negative- (TN) status; morphologic subtypes; histological grade; and nodal involvement. Results: The estimated BC hazard ratios (HRs) for the 74 known BC alleles in BRCA1 carriers exhibited moderate correlations with the corresponding odds ratios from the general population. However, their associations with ER-positive BC in BRCA1 carriers were more consistent with the ER-positive as
May Measurement Month 2018: a pragmatic global screening campaign to raise awareness of blood pressure by the International Society of Hypertension
- Author
- Adler
- Adolfo Chavez
- Adrian Brady
- Agustin J Ramirez
- Aisha M Suhail
- Ala'a Alkerwi
- Albertino Damasceno
- Alberto Atilano
- Aletta E Schutte
- Alexandra O Konradi
- Alexandra Paval
- Ali K Abu Alfa
- Alvita Vickiene
- Amanda Duin
- Amrish Agrawal
- Ana C G FeijĂŁo
- Ana L Barrientos
- Ana Molinero
- Anant Takalkar
- Anastase Dzudie
- Anders L Barasa
- Andrea A BrandĂŁo
- Angel J O Maidana
- Angela J Woodiwiss
- Ani T Gevorkyan
- Anna H Engibaryan
- Anne W Wairagu
- Anuj Maheshwari
- Arnold Mina
- Arsen A Minasyan
- Arun More
- Arun More
- Arun Pulikkottil Jose
- Ashley R Lagos
- Asma A A Osman
- Atul Pathak
- Audes D M Feitosa
- Avag M Avagyan
- Ayodele B Omotoso
- Badai B Tiksnadi
- Bader A Almustafa
- Bambang Widyantoro
- Barry McDonnell
- Beaney
- Bernard M Gitura
- Bernhard K KrÀmer
- Bertrand F Ellenga Mbolla
- Betty Twumasi-Ankrah
- Bezhan Tsinamdzgvrishvili
- Bharathi Viswanathan
- Bhooshun Ori
- Brian W Y Tomlinson
- Briasoulis
- Briggitte Peiger
- Buthaina A Bin Belaila
- Caitlynd Myburgh
- Camilla Torlasco
- Carlos E Peñaherrera
- Carmela Granada
- Charity Syatalimi
- Charles K Mondo
- Chow
- Christian M Kouala Landa
- Chukwuemeka R Nwokocha
- Claudio Borghi
- Claudio Ferri
- Corine Y Houehanou
- Cutberto Espinosa
- Dali Trapaidze
- Deborah I Ona
- Dejuma Y Goshu
- Deolsanik Viegas
- Desalew M Kassie
- Diego Stisman
- Dinesh Neupane
- Dorairaj Prabhakaran
- DĂ©nes PĂĄll
- Eamon Dolan
- Edgar Arcos
- Eka Hermiawaty
- Elena Negresku
- Elham Tavassoli
- Elijah N Ogola
- Ella Niederl
- Elliot K Tannor
- Emmanuela D Jean Baptiste
- Enoch M Deku
- Enrique Gomez-Alvarez
- Enrique Rodilla
- Enver Roshi
- Eoin O'Brien
- Epie Njume
- Eric Lin
- Euloge K Kramoh
- Fabricio Arteaga
- Fadi J Charchar
- Falaschetti
- Fastone M Goma
- Fatima Altahir
- Fazila-Tun-Nesa Malik
- Felix A Barasa
- Fernando S Wyss Quintana
- Fernando T Lanas
- Feroz Memon
- Fiona Anthony
- Florent A N Djomou
- Fortunat K Katamba
- Fortunato Garcia Vasquez
- Francesco P Cappuccio
- Genc Burazeri
- Gentiana Qirjako
- Georges N Ngoyi
- Gianfranco Parati
- Gisele S Kimbally Kaky
- Glenda D N Garcia
- Gonzalez Medina Angel Rafael
- Graciela GG Bogado
- Gregoire Wuerzner
- Gregorio Sanchez
- Griselda Ruiz
- Hafeez A Choudhry
- Hana A Osman
- Harikrishna Bhattarai
- Hassan A Al-Riyami
- Hassan H Shuri
- Hatem A Fageh
- Hawa A Derbi
- Heng-Yu Pan
- Henry L L Ndhlovu
- Hind M Beheiry
- Holly Beistline
- Hung N Phan
- Hung-Ju Lin
- I A Ali
- Ibrahim A Toure
- Idiana P P Martins
- Igor Morr
- Inés A Fuentes
- Irina E Chazova
- Jacek JĂłĆșwiak
- James E Sharman
- James Keitley
- James W Russell
- Jana Brguljan-Hitij
- Jaysing Heecharan
- Jea Krzesinski
- Jean-RenĂ© MâBuyamba-Kabangu
- Jephat Chifamba
- Jessica Calmes
- Jesus A Lopez-Rivera
- Ji-Guang Wang
- Johanna Otero
- John Cockroft
- John Kenerson
- Jolanta MaĆyszko
- Jones K Masiye
- Jose A Octavio-Seijas
- Jose L Accini
- Jose Villalba
- José JG Boggia
- Judita Knez
- Juith M Zilberman
- Junping Deng
- Kabirou H Soumana
- Kamal Ranabhat
- Kamsar Yu Babinyan
- Kearney
- Kenneth Connell
- Khalifa O Muhammed
- Kolawole W Wahab
- Kzaki A Bettamar
- Laura L Garré
- Laura Valdez Valoy
- Lela Sturua
- Li Li
- Linderman
- Lingjuan Fu
- Liying Xu
- Loudes Manese
- Louise M Burrell
- Lu
- Luis Alcocer
- Luis L Martins
- Luis M Dias
- Luis M Ruilope
- lynn Gomez
- Macdonald-Wallis
- Maciej Banach
- Maciej Tomaszewski
- Magdalene I Nwokocha
- Mahmoud U Sani
- Mahsa Zolfaghari
- Manon Gantenbein
- Mansi Patil
- Manuel M de Carvalho Rodrigues
- Marcelo A Forgas
- Marco A M Gomes
- Marcos J Marin
- Marcos Santillan
- Margaretha Persson
- Maria C Dumlao
- Maria Dorobantu
- Maria I Ramirez
- Maria S Garcia
- Marihot Tambunan
- Mario J C C Fernandes
- Marisa F M P Neto
- Mariyln C Villaruel
- Mark Grabfelder
- Markus P Schlaich
- Martin D Houenassi
- Mary B Tiro
- Mary D Lincoln
- Maureen L Chirwa
- Meenakshi Sharma
- Melanie F Paccot
- Melinda J Carrington
- Michael A Weber
- Michael H Olsen
- Mills
- Min Liu
- Minh V Huynh
- Mir Ishraquzzaman
- MirosĆaw Mastej
- Miryan C Spoares
- Mohammad A Al Mamun
- Mohammad Ishaq
- Mohammed M Hassan
- Mosepele Mosepele
- Muhammed Vally
- Muoi To
- Myrian Ayala
- Nadia Khan
- Naiema A W fahal
- Nancy M Nyirenda
- Narsingh Verma
- Nathan M Buila
- Navin K Devaraj
- Neil R Poulter
- Nina Bozic
- Nino Grdzelidze
- Njideka U Okubadejo
- Nooshin NB Bazargani
- Norouzy
- Nouhoum Ouane
- Olena Evstigneeva
- Olsen
- Olulola O Oladapo
- Omar M Msalam
- Osiris Valdez Tiburcio
- Oxana Rotar
- Pablo Rodriguez
- Pamela I Torres
- Parati
- Pascal Bovet
- Pascal M Bayauli
- Paterne R Bakekolo
- Patricia Delgado
- Patricio Lopez-Jaramillo
- Paul A Camacho
- Perk
- Peter M Nilsson
- Philip D Levy
- Pombalino N M Oliveira
- Poulter
- Poulter
- Primoz Dolenc
- Prossie M Ingabire
- Rafael Hernandez-Hernandez
- Rafael R Castillo
- Rankica Bahtijarevic
- Rasheed A Khan
- Rebecca Lee
- Regina Bartolome
- Revathy Carnagarin
- Rhian Touyz
- Richard D Wainford
- Robert N Najem
- Roberto D Miranda
- Roland E Schmeider
- Ruan Kruger
- Rudina Cunashi
- Rudo Gwini
- Sabine Perl
- Saleh A Alshurafa
- Samuel Kingue
- Saskia D Handari
- Savarino S VictĂłria Pereira
- Seaman
- Sekib Sokolovic
- Siew M Ching
- Sinh T Cao
- Sintayehu A Gebru
- Siska S Danny
- Sohel R Choudhury
- Sualat Sidique
- Sudhir Kowlessur
- Suhar Djono
- Sunil K Nadar
- Suzie Cro
- Sweta Koirala
- Tamar Abesadze
- Tapan K Mukherjee
- Tara B Adhikari
- Tatyana TA Khomazyuk
- Teresa GijĂłn-Conde
- Thierry Denolle
- Thilo Burkard
- Thomas Beaney
- Tidiani Fane
- Tine L M De Backer
- Tiny K Masupe
- Tiyezge D Dhlamini
- Tricia Tay
- Tzung-Dau Wang
- Urte Zakauskiene
- Vanda M A A Azevedo
- Viet L Nguyen
- Viktoriia V-Yu Krotova
- Vivian W Y Lee
- Wafula Z Nalwa
- Walter G Espeche
- Weimar S Barroso
- Wen-Jone Chen
- Wenwu Zhao
- Whelton
- White
- Wideline W Saintilmond
- Williams
- Xin Chen
- Xin Xia
- Yamila Cerniello
- Yan Li
- Yi Zhou
- Yook C Chia
- Yuda Turana
- Yves N K Ngoran
- Zhao
- ZoltĂĄn JĂĄrai
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2019
- Field of study
Aims
Raised blood pressure (BP) is the biggest contributor to mortality and disease burden worldwide and fewer than half of those with hypertension are aware of it. May Measurement Month (MMM) is a global campaign set up in 2017, to raise awareness of high BP and as a pragmatic solution to a lack of formal screening worldwide. The 2018 campaign was expanded, aiming to include more participants and countries.
Methods and results
Eighty-nine countries participated in MMM 2018. Volunteers (â„18âyears) were recruited through opportunistic sampling at a variety of screening sites. Each participant had three BP measurements and completed a questionnaire on demographic, lifestyle, and environmental factors. Hypertension was defined as a systolic BP â„140âmmHg or diastolic BP â„90âmmHg, or taking antihypertensive medication. In total, 74.9% of screenees provided three BP readings. Multiple imputation using chained equations was used to impute missing readings. 1 504 963 individuals (mean age 45.3âyears; 52.4% female) were screened. After multiple imputation, 502 079 (33.4%) individuals had hypertension, of whom 59.5% were aware of their diagnosis and 55.3% were taking antihypertensive medication. Of those on medication, 60.0% were controlled and of all hypertensives, 33.2% were controlled. We detected 224 285 individuals with untreated hypertension and 111 214 individuals with inadequately treated (systolic BP â„ 140âmmHg or diastolic BP â„ 90âmmHg) hypertension.
Conclusion
May Measurement Month expanded significantly compared with 2017, including more participants in more countries. The campaign identified over 335 000 adults with untreated or inadequately treated hypertension. In the absence of systematic screening programmes, MMM was effective at raising awareness at least among these individuals at risk
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
- Author
- Aalfs Cora M.
- Adank Muriel A.
- Adenis Claude
- Adlard Julian
- Agata Simona
- Aghmesheh Morteza
- Agnarsson Bjarni A.
- Ahearn Thomas
- AittomÀki Kristiina
- Ambrosone Christine B.
- Amor David
- Andrews Lesley
- Andrulis Irene L.
- Antill Yoland
- Anton-Culver Hoda
- Antonenkova Natalia N.
- Antoniou Antonis C.
- Armitage Shane
- Arndt Volker
- Arnold Leanne
- Arnold Norbert
- Aronson Kristan J.
- Arun Banu K.
- Asseryanis Ella
- Auber Bernd
- Auvinen PĂ€ivi
- Azzollini Jacopo
- Balleine Rosemary
- Balmaña Judith
- Barkardottir Rosa B.
- Barnes Daniel R.
- Barouk-Simonet Emmanuelle
- Barrowdale Daniel
- Barwell Julian
- Bastick Patti
- Baurand Amandine
- Baxter Robert
- Beane Freeman Laura E.
- Beauparlant Charles Joly
- Beckmann Matthias W.
- Beesley Jonathan
- Behrens Sabine
- Beilby John
- Belotti Muriel
- Benitez Javier
- Bennett Ian
- Berger Raanan
- Bermisheva Marina
- Berthet Pascaline
- Bertolone Geoffrey
- Bertrand Ophélie
- Bignon Yves-Jean
- Birot Anne-Marie
- Blackburn Anneke
- Blanco Amie M.
- Blomqvist Carl
- Bogdanova Natalia V.
- Bogliolo Massimo
- Bogwitz Michael
- Bojesen Anders
- Bojesen Stig E.
- Bolla Manjeet K.
- Bonadona Valérie
- Bonanni Bernardo
- Bonnet Françoise
- Borg Ake
- Botes Leon
- Bourdon Violaine
- Boutry-Kryza Nadia
- Brady Angela F.
- Brauch Hiltrud
- Braye Stephen
- Brennan Meagan
- Brenner Hermann
- Bressac-de-Paillerets Brigitte
- Bronner Myriam
- Brown Melissa
- BrĂŒning Thomas
- Bubien Virginie
- Buckley Michael
- Buecher Bruno
- Burgess Matthew
- Burke Jo
- Burwinkel Barbara
- Butow Phyllis
- Buys Saundra S.
- Bézieau Stéphane
- Cadoo Karen
- Caldon Liz
- Caldés Trinidad
- Caleca Laura
- Calender Alain
- Caliebe Almuth
- Caligo Maria A.
- Callen David
- Campa Daniele
- Campbell Ian G.
- Canzian Federico
- Caputo Sandrine
- Caron Olivier
- Carpenter Jane
- Castelao Jose E.
- Castera Laurent
- Catucci Irene
- Chang-Claude Jenny
- Chanock Stephen J.
- Chauhan Deepa
- Chauhan Manisha
- Chenevix-Trench Georgia
- Chiesa Jean
- Christian Alice
- Chung Wendy K.
- Claes Kathleen B. M.
- Clarke Christine L.
- Cohen Paul
- Colas Chrystelle
- Collavoli Anita
- Colley Alison
- Collonge-Rame Marie-AgnĂšs
- Conner Thomas A.
- Coron Fanny
- Couch Fergus J.
- Coulet Florence
- Coupier Isabelle
- Cox David G.
- Crook Ashley
- Cui James
- Culling Bronwyn
- Cummings Margaret
- Cybulski Cezary
- Czene Kamila
- Dahlstrom Jane
- Daly Mary B.
- Damette Alexandre
- Dawson Sarah-Jane
- de la Hoya Miguel
- de Pauw Antoine
- DeFazio Anna
- Delatycki Martin
- Delnatte Capucine
- Dennis Joe
- Devilee Peter
- Dickson Rebecca
- Diez Orland
- Ding Yuan Chun
- Dite Gillian S.
- Ditsch Nina
- Dixon Joanne
- Dobrovic Alexander
- Domchek Susan M.
- Dorfling Cecilia M.
- dos-Santos-Silva Isabel
- Dreyfus HĂ©lĂšne
- Dudding Tracy
- Dumont Aurélie
- Dunning Alison M.
- Dupré Anaïs
- Durda Katarzyna
- Dwek Miriam
- Dörk Thilo
- Easton Douglas F.
- Eccles Diana M.
- Edkins Ted
- Edwards Stacey
- Eisenbruch Maurice
- Ekici Arif B.
- Eliassen A. Heather
- Ellberg Carolina
- Eriksson Mikael
- Evans D. Gareth
- Faivre Laurence
- Farshid Gelareh
- Fasching Peter A.
- Feillel Viviane
- Fellows Andrew
- Fenton Georgina
- Fert-Ferrer Sandra
- Field Michael
- Figlioli Gisella
- Figueroa Jonine
- Flanagan James
- Flyger Henrik
- Fong Peter
- Forbes John
- Forrest Laura
- Fostira Florentia
- Foulkes William D.
- Fourme Emmanuelle
- Fox Stephen
- French Juliet
- Friebel Tara M.
- Friedlander Michael
- Friedman Eitan
- Gabrielson Marike
- Gaddam Pragna
- Gaff Clara
- Gago-Dominguez Manuela
- Gallego-Ortega David
- Gao Chi
- Gapstur Susan M.
- Garber Judy
- GarcĂa-Closas Montserrat
- GarcĂa-SĂĄenz JosĂ© A.
- Gattas Mike
- Gaudet Mia M.
- Gauthier-Villars Marion
- Gayther Simon A.
- George Peter
- Gesta Paul
- Giles Graham G.
- Gill Grantley
- Giraud Sophie
- Gladieff Laurence
- Glendon Gord
- Godwin Andrew K.
- Goldberg Mark S.
- Goldgar David E.
- Golmard Lisa
- Greene Mark H.
- Greening Sian
- Guillaud-Bataille Marine
- Guimbaud Rosine
- Gutierrez-Barrera Angelica M.
- Guénel Pascal
- Haan Eric
- Haeberle Lothar
- Hahnen Eric
- Haiman Christopher A.
- Hall Per
- Hamann Ute
- Harrington Patricia A.
- Harris Marion
- Hart Stewart
- Hayward Nick
- Hein Alexander
- Heiniger Louise
- Heyworth Jane
- Hillemanns Peter
- Hollestelle Antoinette
- Hopper John L.
- Hosgood H. Dean
- Howell Anthony
- Hu Chunling
- Hulick Peter J.
- Hunt Clare
- Hunter David J.
- HĂ„kansson Niclas
- Imyanitov Evgeny N.
- Ingster Olivier
- Isaacs Claudine
- Jacquot Caroline
- Jakimovska Milena
- Jakubowska Anna
- James Paul
- Janavicius Ramunas
- Janni Wolfgang
- Jenkins Mark
- John Esther M.
- Jones Michael E.
- Jung Audrey
- Kaaks Rudolf
- Karlan Beth Y.
- Kefford Rick
- Khusnutdinova Elza
- Kidd Alexa
- Kientz Caroline
- Kiiski Johanna I.
- Kirk Judy
- Kitahara Cari M.
- Koehler Jessica
- Kollias James
- Konstantopoulou Irene
- Koutros Stella
- Kraft Peter
- Lakhani Sunil
- Lallaoui Hakima
- Lambrechts Diether
- Lasheras Sandra Viz
- Lasset Christine
- Lazaro Conxi
- Le Marchand Loic
- Le Mentec Marine
- Lebrun Marine
- Lee C. Soon
- Legrand Clémentine
- Lejbkowicz Flavio
- Lejeune Sophie
- Leroux Christine Dominique
- Leslie Goska
- Lester Jenny
- Lesueur Fabienne
- Lilyquist Jenna
- Lindeman Geoff
- Lipton Lara
- Lizard Sarab
- Lobb Liz
- Longy Michel
- Loud Jennifer T.
- Lu Karen H.
- Luben Robert N.
- Lubinski Jan
- Lush Michael
- LĂ©one MĂ©lanie
- Mann Graham
- Mannermaa Arto
- Manoochehri Mehdi
- Manoukian Siranoush
- Manouvrier-Hanu Sylvie
- Margolin Sara
- Mari VĂ©ronique
- Marsh Deborah
- Martens John W. M.
- Maurer Tabea
- Mavroudis Dimitrios
- McGuffog Lesley
- McLachlan Sue Anne
- Mebirouk Noura
- Meindl Alfons
- Meiser Bettina
- Menon Usha
- Michailidou Kyriaki
- Miller Austin
- Milne Roger L.
- Molina-Gomes Denise
- Moncoutier Virginie
- Montagna Marco
- Morey Adrienne
- Mortemousque Isabelle
- Muller DaniĂšle
- Muranen Taru A.
- Nathanson Katherine L.
- Neuhausen Susan L.
- Nevanlinna Heli
- Newman William G.
- Nguyen-Dumont Tu
- Nielsen Finn Cilius
- Nielsen Sarah
- Nightingale Sophie
- Nikitina-Zake Liene
- Noguchi Tetsuro
- NoguĂšs Catherine
- Offit Kenneth
- Olah Edith
- Olopade Olufunmilayo I.
- Olshan Andrew F.
- Olson Janet E.
- Olsson HĂ„kan
- Osorio Ana
- Ottini Laura
- OâConnell Shona
- OâSullivan Sarah
- Pachter Nick
- Parsons Michael T.
- Pathmanathan Nirmala
- Patterson Briony
- Peissel Bernard
- Peixoto Ana
- Peterlongo Paolo
- Peto Julian
- Peysselon Magalie
- Pharoah Paul D. P.
- Phillips Kelly
- Pieper Ellen
- Plaseska-Karanfilska Dijana
- Pocza Timea
- Popovici Cornel
- Presneau Nadege
- Prieur Fabienne
- Pujana Miquel Angel
- Pujol Pascal
- Pujol Roser
- Punie Kevin
- Rack Brigitte
- Radice Paolo
- Ramus Susan J.
- Rantala Johanna
- Rashid Muhammad U.
- Rau-Murthy Rohini
- Rebischung Christine
- Remenieras Audrey
- Rennert Gad
- Rhenius Valerie
- Rickard Edwina
- Robinson Bridget
- Romero Atocha
- Rookus Matti A.
- Ross Eric A.
- Rossing Maria
- Rudaitis Vilius
- Ruebner Matthias
- Révillion Françoise
- Saleh Mona
- Salisbury Elizabeth
- Saloustros Emmanouil
- Sambrook Joe
- Sanden Kristin
- Santamariña Marta
- Saule Claire
- Saunders Christobel
- Saunus Jodi
- Scheuner Maren T.
- Schmidt Marjanka K.
- Schmutzler Rita K.
- Schneider Michael
- Scott Christopher
- Scott Clare
- Scott Elizabeth
- Scott Rodney
- Senter Leigha
- Sevenet Nicolas
- Sexton Adrienne
- Shah Mitul
- Sharma Priyanka
- Shelling Andrew
- Shu Xiao-Ou
- Simard Jacques
- Simpson Peter
- Singer Christian F.
- Sobol Hagay
- Sohn Christof
- Sokolowska Johanna
- Soubrier Florent
- Soucy Penny
- Southey Melissa C.
- Spigelman Allan
- Spinelli John J.
- Spurdle Amanda
- Steele Linda
- Stoppa-Lyonnet Dominique
- Surrallés Jordi
- Swerdlow Anthony J.
- Tapper William J.
- Taylor Jessica
- Teixeira Manuel R.
- Terry Mary Beth
- Thomassen Mads
- Thompson Jennifer
- Thorne Heather
- Thull Darcy L.
- Tischkowitz Marc
- Toland Amanda E.
- Tollenaar Rob A.E.M.
- Torres Diana
- Toulas Christine
- Trainer Alison
- Troester Melissa A.
- Truong ThérÚse
- Tucker Kathy
- Tung Nadine
- Uhrhammer Nancy
- Untch Michael
- Vachon Celine M.
- van Rensburg Elizabeth J.
- van Veen Elke M.
- Vaur Dominique
- Vega Ana
- Viel Alessandra
- Visvader Jane
- VĂ©nat-Bouvet Laurence
- Walker Logan
- Wang Qin
- Wappenschmidt Barbara
- Warcoin Mathilde
- Weitzel Jeffrey N.
- Wendt Camilla
- Wieme Greet
- Wilcken Nicholas
- Williams Rachael
- Winship Ingrid
- Wolk Alicja
- Yang Xiaohong R.
- Yip Desmond
- Young Mary Ann
- Zeps Nikolajs
- Zheng Wei
- Ziogas Argyrios
- Zorn Kristin K.
- Publication venue
- npj Breast Cancer
- Publication date
- 01/01/2019
- Field of study
Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCMâ/â patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
- Author
- Aalfs Cora M.
- Aaltonen Kirsimari
- Adenis Claude
- Adlard Julian
- Agnarsson Bjarni A.
- AittomÀki Kristiina
- Alonso Rosario
- Amadori Alberto
- Andrulis Irene L.
- Angelakos Maggie
- Antoniou Antonis C.
- Ardern Jones Audrey
- Ardnor Christina Edwinsdotter
- Arnold Norbert
- Arun Banu K.
- Arver Brita
- Attard Virginia
- Ausems M. G. E. M.
- Balmaña J.
- Balogh Maria
- Bancroft Elizabeth
- Bardel Claire
- Bardsley Cathryn
- Barile Monica
- Barjhoux Laure
- Barouk Simonet Emmanuelle
- Barroso Alicia
- Barrowdale Daniel
- Barton David
- Barwell Julian
- Belotti Muriel
- Benitez Javier
- Berger Andreas
- Berlin Cheryl
- Berthet Pascaline
- Bignon Yves Jean
- Blanco Amie
- Blanco Ignacio
- Blein Sophie
- Blok M. J.
- Blomqvist Drs Carl
- Bonadona Valérie
- Bonanni Bernardo
- Bonnet Françoise
- Borg Ake
- Bourdon Violaine
- Bove Betsy
- Bozsik Aniko
- Bradshaw Nicola
- Brady Angela
- Breast Cancer Family Registry Null
- Bressac de Paillerets Brigitte
- Brewer Carole
- Brice Glen
- Bronner Myriam
- Bubien Virginie
- Buecher Bruno
- Bustinza Gisela Barbany
- Buys Saundra S.
- Caldes Trinidad
- Calender Alain
- Caligo Maria A.
- Capella Gabriel
- Capone Gabriele L.
- Caron Olivier
- Carter Jonathan
- Castro Elena
- Chan Salina
- Chenevix Trench Georgia
- Chung Wendy K.
- Claber Oonagh
- Claes Kathleen
- Colas Chrystelle
- Cole Trevor
- Collier Rebecca
- Collonge Rame Marie AgnĂšs
- Collée J. M.
- Conejero Raquel Andrés
- Conrad Peggy
- Cook Jackie
- Corines Marina
- Coron Fanny
- Couch Fergus J.
- Coulet Florence
- Coupier Isabelle
- Cox David G.
- Craven Caroline
- Crawford Beth
- Crawford Gillian
- Damette Alexandre
- Damiola Francesca
- Danjean Vincent
- Davidson Rosemarie
- de Bock G. H.
- de la Hoya Miguel
- de Lange J. L.
- De Leeneer Kim
- de Pauw Antoine
- Del Valle JesĂșs
- Delatycki Martin
- della Puppa Lara
- Delnatte Capucine
- Demange Liliane
- Dennis Joe
- Devilee Peter
- Diez Orland
- Ding Chun
- Ding Yuan Chun
- Dishon Sara
- Disilvestro Paul A.
- Dite Gillian
- Ditsch Nina
- Dolcetti Riccardo
- Domchek Susan M.
- Domokos Gabriella
- Donaldson Alan
- Dorfling Cecilia M.
- Dorkins Huw
- Douglas Fiona
- Dreyfus HĂ©lĂšne
- Driessen Rebecca
- Drummond Sarah
- Dumont Martine
- Duncan Alexis
- Durda Katarzyna
- Durell Sarah
- Eason Jacqueline
- Easton Douglas F.
- Eccles Diana
- Eddy Charlotte
- Eeles Ros
- Eglitis Drs Janis
- Ehrencrona Hans
- Einbeigi Zakaria
- Eisinger François
- Ejlertsen Bent
- Ellis Ian
- Ellis Steve
- Emanuelsson Monica
- Embrace Null
- Engel Christoph
- ErkkilÀ Irja
- Evans D. Gareth
- Faivre Laurence
- Feillel Viviane
- Ferenczi Judit
- Ferrer Sandra Fert
- Fineberg Elena
- Fink Retter Anneliese
- Foo Claire
- Foretova Lenka
- Foulkes William
- Fournier Joëlle
- Franko Judit
- Fricker Jean Pierre
- Friedman Eitan
- Frost Debra
- Frénay Marc
- Garber Judy
- Gauthier Villars Marion
- Gayther Simon
- Gehrig Andrea
- Gerdes Anne Marie
- Gibson Sarah
- Gille J. J. P.
- Giraud Sophie
- Gladieff Laurence
- Glendon Gord
- Godwin Andrew K.
- Goff Sheila
- Goldgar David E.
- Golmard Lisa
- Goodman Selina
- Greene Mark H.
- Gregory Helen
- GriĆĄkevicius Laimonas
- Gronwald Jacek
- Guimbaud Rosine
- GĂłmez Garcia E. B.
- Halliday Dorothy
- Hamann Ute
- Handallou Sandrine
- Hansen Thomas V. O.
- Haque Eshika
- Harbst Katja
- Hardouin AgnĂšs
- Harrington Patricia
- Harris Marion
- Healey Sue
- Henriksson Karin
- Hill Kathryn
- Hodgson Shirley
- Hoffman Jonathan
- Hogervorst Frans B. L.
- Hooning M. J.
- Houdayer Claude
- Houghton Catherine
- Houlston Richard
- Imyanitov Evgeny N.
- Isaacs Claudine
- Izatt Louise
- Jacobs Chris
- Jacobs Lauren
- Jager Agnes
- Jakubowska Anna
- James Margaret
- Janavicius Ramunas
- Jaworska Bieniek Katarzyna
- Jeffers Lisa
- Jensen Uffe Birk
- Jernström Helena
- Jobson Irene
- Karlan Beth Y.
- Karlsson Per
- Kast Karin
- Kaulich Daphne Geschwantler
- Kennedy M. John
- Kets Carolien M.
- Kientz Caroline
- Killick Emma
- Kivuva Emma
- Kleibl Zdenek
- Kohut Kelly
- Konstantopoulou Irene
- Krilova Anna
- Kristoffersson Ulf
- Kruse Torben A.
- Kuchenbaecker Karoline B.
- Kulkarni Anjana
- Kwan Lorna
- Laitman Yael
- Lalloo Fiona
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- Langman Caroline
- Lasset Christine
- Lazaro Conxi
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- Lee Andrew
- Lee Robin
- Lefol CĂ©drick
- Lehmann Anna
- Lejbkowicz Flavio
- Leroux Dominique
- Lester Jenny
- Lidereau Rosette
- Liedgren Sigrun
- Liljegren Annelie
- Lincoln Anne
- Lindblom Annika
- Lindeman Geoffrey
- Lindor Noralane M.
- Loman Niklas
- Longmuir Mark
- Longy Michel
- Loranger Kate
- Lubinski Jan
- Lucassen Anneke
- Lynch Henry T.
- LĂ©one MĂ©lanie
- Machackova Eva
- Mai Phuong L.
- Mak Julie
- Male Alison
- Manoukian Siranoush
- Markov Nadja Bogdanova
- Martayan Aline
- Martin Sue
- Maskiell Judi
- Maugard Christine
- Mazoyer Sylvie
- Mcbride Donna
- Mccann Emma
- Mcguffog Lesley
- Mcleod Diane
- Meijers Heijboer Hanne E. J.
- Meindl Alfons
- Melin Beatrice
- Mensenkamp A. R.
- Miedzybrodzka Zosia
- Mitchell Gillian
- Moncoutier Virginie
- Montagna Marco
- Morrison Patrick J.
- Mortemousque Isabelle
- Mourits M. J.
- Muller DaniĂšle
- Mulligan Anna Marie
- Muranen Taru A.
- Murday Victoria
- Murray Alexandra
- Nathanson Katherine L.
- Neuhausen Susan L.
- Nevanlinna Heli
- Niederacher Dieter
- Niedermayr Eveline
- Nielsen Finn C.
- Niu Qun
- Noguchi Tetsuro
- Nogues Catherine
- Nordling Margareta
- Nussbaum Robert L.
- O'Conor Michelle
- Obdeijn I. M.
- Offit Kenneth
- Olah Edith
- Olopade Olufunmilayo I.
- Olsson HĂ„kan
- Olswold Curtis
- Ong Kai Ren
- Oosterwijk Jan C.
- Orsulic Sandra
- Osorio Ana
- OTTINI LAURA
- Overbeek L. I. H.
- Page Elizabeth
- Palola Virpi
- Pankratz Vernon S.
- Papi Laura
- Papp Janos
- Paterson Joan
- Pedersen Inge Sokilde
- Peissel Bernard
- Peixoto Ana
- Pensotti Valeria
- Peterlongo Paolo
- Peyrat Jean Philippe
- Peysselon Magalie
- Pfeiler Georg
- Pharoah Paul D. P.
- Phelan Catherine M.
- Piedmonte Marion
- Pigg Maritta Hellström
- Pilato Brunella
- Pinchev Mila
- Pinto Pedro
- Pita Guillermo
- Platte Radka
- Plendl Hansjoerg
- Pocza Timea
- Pohlreich Petr
- Porteous Mary E.
- Preisler Adams Sabine
- Prieur Fabienne
- Pujol Pascal
- Pye Carole
- Quarrell Oliver
- Radice Paolo
- Rahman Nazneen
- Ramus Susan J.
- Rantala Johanna
- Rappaport Christine
- Rea Gillian
- Rebbeck Timothy R.
- Rebischung Christine
- Remenieras Audrey
- Rennert Gad
- Rhiem Kerstin
- Robson Mark
- Rocha PatrĂcia
- Rogers Mark T.
- Rookus Matti A.
- Rosenquist Richard
- Rouleau Etienne
- Rudaitis Vilius
- Révillion Françoise
- Santos Catarina
- Sawyer Sarah
- Schmidt M. K.
- Schmutzler Rita K.
- Scuvera Giulietta
- Searle Anne
- Segota Ena
- Seldon Joyce
- Senter Leigha
- Serra Feliu Gemma
- Sevenet Nicolas
- Seynaeve C.
- Shanley Susan
- Side Lucy E.
- Siesling S.
- Simard Jacques
- Singer Christian F.
- Sinilnikova Olga M.
- Smalley Sarah
- Snadden Lesley
- Snyder Carrie L.
- Sobol Hagay
- Sokolowska Johanna
- Soller Maria
- Sornin Valérie
- Soubrier Florent
- Soucy Penny
- Spurdle Amanda B.
- Stayner Barbara
- Steele Linda
- Steinemann Doris
- Stengrevics Aivars
- Stenmark Askmalm Marie
- Stewart Nicola
- Stoppa Lyonnet Dominique
- Sukiennicki Grzegorz
- Sutter Christian
- Sweet Kevin
- Szabo Csilla I.
- Taylor Amy
- Taylor Jane
- Tchatchou Sandrine
- Tea Muy Kheng
- Teixeira Manuel R.
- Terry Mary Beth
- Teulé Alex
- Thelander Margo
- Thomas Gilles
- Thomassen Mads
- Thompson Ella
- Thorne Heather
- Tibiletti Maria Grazia
- Tihomirova Laima
- Tirapo Carole
- Tischkowitz Marc
- Tobias Ed
- Toland Amanda Ewart
- Tollenaar R. A. E. M.
- Tommasi Stefania
- Toulas Christine
- Tranchant Martine
- Tripathi Vishakha
- Tsimiklis Helen
- Tung Nadine
- Uhrhammer Nancy
- van Asperen C. J.
- van Cronenburg T. C. T. E. F.
- van den Ouweland Ans M. W.
- van der Hout A. H.
- van der Luijt Rob B.
- van Deurzen C. H. M.
- Van Le Linda
- van Leeuwen Flora E.
- van Os T. A. M.
- van Rensburg Elizabeth J.
- van Roozendaal Kees E. P.
- Varesco Liliana
- Varon Mateeva Raymonda
- Vasen H. F.
- Vaszko Tibor
- Vennin Philippe
- Verhoef S.
- Verny Pierre Carole
- Viel Alessandra
- Vijai Joseph
- von Wachenfeldt Anna
- VĂ©nat Bouvet Laurence
- Waisfisz Q.
- Walker Lisa
- Wang Gohrke Shan
- Wappenschmidt Barbara
- Watt Catherine
- Weaver Jo Ellen
- Weitzel Jeffrey N.
- Wiggins Jennifer
- Wijnands R.
- Wijnen J. T.
- Winchester Lizzie
- Wozniak Eva
- Yannoukakos Drakoulis
- Zaffaroni Daniela
- Zidan Jamal
- Zikan Michal
- Zvocec Cecilia
- Ăfverholm Anna
- Publication venue
- Publication date
- 01/01/2015
- Field of study
Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. Methods: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. Results: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. Conclusions: This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.Peer reviewe
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
- Author
- Aalfs C.M. (Cora)
- Adenis C. (Claude)
- Adlard J.W. (Julian)
- Agata S. (Simona)
- Agnarsson B.A. (Bjarni)
- AittomÀki K. (Kristiina)
- Andersen M.K. (Mette)
- Andrulis I.L. (Irene)
- Angelakos M. (Maggie)
- Antoniou A.C. (Antonis)
- Ardern-Jones A. (Audrey)
- Ardnor C.E. (Christina Edwinsdotter)
- Arnold N. (Norbert)
- Arun B.K. (Banu)
- Arver B. (Brita Wasteson)
- Asperen C.J. (Christi) van
- Attard V. (Virginia)
- Ausems M.G.E.M. (Margreet)
- Bacot F. (Francois)
- Bae-Jump V.L. (Victoria L.)
- Balmana J. (Judith)
- Bancroft E.K. (Elizabeth)
- Bardsley C. (Cathryn)
- Barjhoux L. (Laure)
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- Barton D.E. (David)
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- Teo S.-H. (Soo-Hwang)
- Terry M.-B. (Mary-Beth)
- Tessier Y. (Yann)
- Teulé A. (A.)
- Thomassen M. (Mads)
- Thorne H. (Heather)
- Tibiletti M.G. (Maria Grazia)
- Tihomirova L. (Laima)
- Tirapo C. (Carole)
- Tischkowitz M. (Marc)
- Tobias E. (Ed)
- Tognazzo S. (Silvia)
- Tollenaar R.A.E.M. (Rob)
- Toulas C. (Christine)
- Tripathi V. (Vishakha)
- Tung N. (Nadine)
- Uhrhammer N. (Nancy)
- Varesco L. (Liliana)
- Varon-Mateeva R. (Raymonda)
- Vaszko T. (Tibor)
- Vennin P. (Philippe)
- Verhoef S.
- Verhoef S. (S.)
- Verny-Pierre C. (Carole)
- Viel A. (Alessandra)
- Vijai J. (Joseph)
- Vincent D. (Daniel)
- Volorio S. (Sara)
- VĂ©nat-Bouvet L. (Laurence)
- Wachenfeldt A. (Anna) von
- Waisfisz Q. (Quinten)
- Walker L.J. (Lisa)
- Walsh C.S. (Christine)
- Wang C. (Chen)
- Wang X. (Xianshu)
- Wapenschmidt B. (Barbara)
- Watt C. (Catherine)
- Weaver J. (JoEllen)
- Weber B.H.F. (Bernhard)
- Weitzel J.N. (Jeffrey)
- Wiggins J. (Jennifer)
- Wijnen J.T. (Juul)
- Wijnen J.T. (Juul)
- Winchester L. (Lizzie)
- Yannoukakos D. (Drakoulis)
- ZĆowocka-PerĆowska E. (Elzbieta)
- Ăfverholm A. (Anna)
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- 15/04/2013
- Field of study
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7Ă10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4Ă10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4Ă10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat
New genetic loci link adipose and insulin biology to body fat distribution.
- Author
- Aalto Ville
- AasarĂžd Knut
- Abecasis Goncalo R
- Abecasis Gonçalo
- Absher Devin
- Adair Linda S
- Adam Martin
- Adeyemo Adebowale
- Ahlqvist Emma
- Ahmadi Kourosh R
- Ahola Aila
- Ainali Chrysanthi
- Akylbekova Ermeg
- Ala-Korpela Mika
- Alavere Helen
- Albagha Omar M E
- Albrecht Eva
- Alen Markku
- Alexander Myriam
- Alhenc-Gelas François
- Alizadeh Behrooz Z
- Allison Matthew A
- Alonso Nerea
- Altshuler David
- Ambite Jose Luis
- Amin Najaf
- Amouyel Philippe
- An Ping
- Anderson Carl A
- Anderson Denise
- Anderson Garnet
- Andrews Jeanette S
- Antonella Mulas
- Antti Jula
- Aragaki Aaron K
- Arking Dan E
- Arnold Alice
- Arnold Alice M
- Arora Pankaj
- Arscott Gillian M
- Artigas Maria Soler
- Arveiler Dominique
- Asiki Gershim
- Aspelund Thor
- Assimes Themistocles L
- Atalay Mustafa
- Atkinson Elizabeth J
- Aulchenko Yurii
- Avery Christy
- Bain Stephen C
- Bakker Stephan J L
- Balcells Susana
- Balkau Beverley
- Ballantyne Christie M
- Balmforth Anthony J
- Bandinelli Stefania
- Barbalic Maja
- Barrett Amy
- Barroso Ines
- Barroso InĂȘs
- Basart Hanneke
- Basart Hanneke V
- Bataille Veronique
- Baumert Jens
- Beckmann Jacques S
- Beekman Marian
- Been Latonya F
- Beilby John
- Beilby John P
- Bell Jordana T
- Bellis Claire
- Bennett Amanda J
- Bennett Franklyn
- Berenson Gerald S
- Bergman Richard N
- Bergmann Sven
- Berndt Sonja I
- Berne Christian
- Bidulescu Aurelian
- Bielak Lawrence F
- Bierut Laura J
- Biffar Reiner
- Bis Joshua C
- Blackburn Hannah
- Blangero John
- Blankenberg Stefan S
- BlĂŒher Matthias
- Boban Mladen
- Bochud Murielle
- Boehm Bernhard O
- Boehnke Michael
- Boerwinkle Eric
- Boezen H Marike
- Bolton Jennifer L
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- Bonnet Fabrice
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- Boomsma Dorret I
- Borecki Ingrid
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- Borja Judith B
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- Boston Jonathan
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- Bouatia-Naji Nabila
- Bouchard Claude
- Bovet Pascal
- Boyd Heather A
- Bragg-Gresham Jennifer L
- Brambilla Paolo
- Brand Eva
- Brand Stefan-Martin
- Brandi Maria Luisa
- Braund Peter S
- Brennan Eoin P
- Brismar Kerstin
- Brody Jennifer
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- Broer Linda
- Brown Matthew A
- Brown Morris J
- Brown-Gentry Kristin
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- Burnier Michel
- Burri Andrea
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- Busonero Fabio
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- Chang Yen-Pei C
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- Chasman Dan
- Chaturvedi Nish
- Chen Constance
- Chen Han
- Chen Ida
- Chen Jin
- Chen Ming-Huei
- Chen Wei
- Chen Yii-Der Ida
- Cheng Iona
- Cheng Sulin
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- Cho Yoon Shin
- Choi Murim
- Chouraki Vincent
- Christiansen Claus
- Chu Audrey Y
- Cimponeriu Dan
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- Claudi-Boehm Simone
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- Curhan Gary
- d'Adamo Pio
- Dahgam Santosh
- Dailiana Zoe
- Danesh John
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- Daw E Warwick
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- Dreisbach Albert W
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- Wilson Scott G
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- Witteman Jacqueline C M
- Wojczynski Mary K
- Wolffenbuttel Bruce H R
- Wong Andrew
- Wong Tien Y
- Woo Jean
- Wood Andrew R
- Wood Andy
- Workalemahu Tsegaselassie
- Wright Alan F
- Wu Chunyuan
- Wu Joseph M W
- Wu Ying
- WĂŒrtz Peter
- Xiao Su-Mei
- Yajnik Chittaranjan S
- Yang Jian
- Yang Qiong
- Yang Tsun-Po
- Yao Jie
- Yengo LoĂŻc
- Yerges-Armstrong Laura M
- Young Alicia
- Young Elizabeth H
- Young J H
- Young Lauren
- Yuan Xin
- Zaboli Ghazal
- Zalloua Pierre A
- Zarrabeitia MarĂa T
- Zelenika Diana
- Zemunik Tatijana
- Zerbini Gianpaolo
- Zgaga Lina
- Zhai Guangju
- Zhang Feng
- Zhang Qunyuan
- Zhang Weihua
- Zhao Jing Hua
- Zhao Wei
- Zheng Hou-Feng
- Zheng Wei
- Zhou Yanhua
- Zhu Haidong
- Zhu Kun
- Zhu Xiaofeng
- Zhuang Wei V
- Zhuang Wei Vivian
- Ziegler Andreas
- Zillikens M Carola
- Zimmermann Martina E
- Zitting Paavo
- Zondervan Krina T
- Zukowska-Szczechowska Ewa
- Zygmunt Marek
- Ărnlöv Johan
- Ăsterholm Anne-May
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2015
- Field of study
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (PÂ <Â 5Â ĂÂ 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard VĂ©ronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
- Asomugha Chinwe O.
- Asuncion Lawreen
- Atkin Deborah
- Atkinson Andrea
- Atkinson Barry
- Attix Cristina
- Attwood John
- Aubin Keith
- Auger Katherine
- Austin Shannon Michelle
- Avila Aaron
- Avis Terry
- Ayele Mulu
- Babayan Primo
- Babbage Anne
- Babbage Sarah
- Bach Phil
- Bachatsang Pasang
- Bacon Joanne
- Badri Hummy
- Baertsch Robert
- Bagguley Claire
- Bailey Jonathan
- Bajorek Eva
- Baker Andrew
- Baker Dan
- Baker M.
- Baker Richard
- Bakis Michele
- Baldwin Jennifer
- Banda Michael
- Banerjee Ruby
- Bao Jingyue
- Bao Qiyu
- Bao Weidong
- Bao Weidong
- Baptiste Pertrice
- Barbaria Joseph A.
- Barbe Valérie
- Bardill Simon
- Barker Daniel
- Barker Darren
- Barker Gary
- Barlow Karen
- Baron Laurent
- Barrett Anika
- Bartlett Rebecca
- Basham Victoria
- Bashman David
- Basu Suba
- Bateman Alex
- Bates Karen
- Battles John
- Batzer Mark
- Baumgart Cornelia
- Baumohl Jason
- Baynes Caroline
- Bayul Tashi
- Beall Keith
- Beard Lisa
- Beard Susan
- Beare David
- Beasley Alastair
- Beasley Helen
- Beasley Oliver
- Beaucham Leslie
- Beaudet Arthur
- Beck Alfred
- Beck Stephen
- Becker Michael
- Bell Emma
- Bell George I.
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- Bellerby Damian
- Bellerby Tristram
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- Benard Michael Anthony
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- Benner William
- Bennett James
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- Bentley David
- Berardinis VĂ©ronique de
- Bercovitz John
- Berghoff Amy
- Bergmann Anne
- Berkowicz Nicolas
- Berks Mary
- Berks Michael
- Bethel Graeme
- Beugelsdijk Tony J.
- Bhakta Rita
- Bhuchar Venita
- Bi Shihua
- Bian Xuemeng
- Bieri Tamberlyn
- Bimage Kesha E.
- Bird Christine
- Birditt Brian
- Birney Ewan
- Birney Ewan
- Birren Bruce
- Bissell Helen
- Biswalo Kaneza
- Bituin Aleksandr
- Black Stacey
- Blackburne-Maze Suzanne
- Blair Jessica Anne
- Blakey Sarah
- Blanks Tia
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- Bolton Christel
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- Bonnett Ralph
- Bonnin David
- Border Richard
- Borowsky Mark
- Borzym Katja
- Boukhgalter Boris
- Bowen Eric
- Bradley Amanda
- Bradshaw-Cordum Holly
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- Brandriff Brigitte F.
- Brannon Wade
- Branscomb Elbert
- Bray Jason
- Bray-Allen Sarah
- Brettin Thomas
- Bridgeman Anne
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- Brokstein Peter
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- Buckle Veronica
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- Bunker Nathan
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- Burch Paula Ellen
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- Burgess Joanne
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- Burkett Carrie E.
- Burkhart-Schultz Karolyn
- Burrell Kevin L.
- Burrill Wayne
- Burrows Christine
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- Cahill Patrick
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- Calderon Eliana
- Callen David F.
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- Campo Kevin
- Canning Bruno
- Cao Ting
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- Chen Ellson
- Chen Hsiu-Chuan
- Chen Jianlong
- Chen Jie
- Chen Jin
- Chen Junbao
- Chen Lihong
- Chen Lixia
- Chen Ray
- Chen Shu
- Chen Tong
- Chen Xiaoyun
- Chen Xinyi
- Chen Yanjiong
- Chen Yiyu
- Chen Zhu
- Chen Zhu
- Chen Zhu
- Cheng Jan-Fang
- Cheng Zhihua
- Chertkov Olga
- Cheshatsang Yama
- Chi Cheng
- Chi Han C.
- Chillingworth Neil
- Chin Sylvia
- Chinn Corey
- Chinwalla Asif
- Chissoe Stephanie
- Chiu Sally
- Chothia Tom
- Christensen Mari
- Christopoulos Constantine
- Chu Joseph
- Chui Connie
- Chung A
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- Citroen Mieke
- Clack Rob
- Clamp Michele
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- Clark Richard
- Clark Sarah
- Clark Sue
- Clarke Adrian
- Clarke Betty
- Clarke Eddie
- Clarke Kay
- Clarke Laura
- Clawson Hiram
- Clee Chris
- Clegg Shelia
- Clerc Blankenburg Kerstin Petra
- Cleveland David
- Clifford Karen
- Clifton Sandra W.
- Coates Julia
- Cobley Victoria
- Cockrell Raynard
- Coffey Alison
- Cofield Jackie
- Coggill Penelope
- Cohn Judith D.
- Colayco Rick
- Cole Lotte
- Collier Rachael
- Collings Simon
- Collins Francis S.
- Collins John
- Collins Philip
- Collymore Al
- Colman Louise
- Combs Jessie
- Comstock Robin
- Cong Bin
- Conner Richard
- Connolly Anthony
- Connolly Karen
- Conquer Jennie
- Conrad Ansgar
- Conroy Donald
- Considine Tony
- Constance Doug
- Cook April
- Cook Leanna
- Cooke Patrick
- Cooper Jonathan
- Cooper Rachel
- Cooper Robert
- Copeland Alex
- Coppola Maria
- Copsey Teresa
- Corby Nicole
- Cordes Matt
- Cordray Rebecca
- Cornell Christine
- Cornell Earl
- Cornell Linda
- Cornell Ruth
- Corum Ben
- Cottage Amanda
- Cotton Sara
- Coulson Alan
- Couronne Olivier
- Courtney Laura P.
- Coville Gez
- Cox Anthony
- Cox Caroline D.
- Cox Tony
- Coxhill Robert
- Coyle Marcus D.
- Craig Matthew
- Crane Tom
- Crawford Amanda L.
- Crawley Matt
- Cree Andrew
- Crespeau Hervé
- Crew Victor
- Critchlow Terrance
- Critz Paul
- Cruaud Corinne
- Cuff James
- Cui Hongjuan
- Cui Jinhui
- Cui Peng
- Cui Peng
- Culley Karl
- Cummings Auli
- Cummings Kirsti
- Cummings Paul
- Cummings Stephanie
- Cuomo Christina A.
- Curran Adam
- Curwen Valery
- Cutts Jeffrey
- Czubayko Martin
- D\u27Souza Lisa Marie
- Da Silva Corinne
- Dai Li
- Dalin Eillen
- Dang Michelle
- Danganan Linda
- Daniels Rachael
- Dathorne Stephanie R.
- Daum Christopher
- David Robert
- Davidson Lucy
- Davidson Stuart
- Davies Jonathon
- Davies Joy
- Davies Nicholas
- Davies Robert
- Davila Mary Louise
- Davis Candi Mon\u27et
- Davis Cheryl
- Davis Clay
- Davis Jayne
- Davis John
- Davis Matthew
- Davy-Carroll Latarsha
- Dawoe Tenzin
- Dawson Elisabeth
- De Anda Claudia
- De Latorre Andrea
- Deadman Rebecca
- Dean Peter
- Dear Simon
- Dearden Frances
- DeArellano Kurt
- Deaven Larry I.
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- Deere Kerry
- DeGray Stewart
- Degusta David
- Deguzman Maria
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- Doggett Norman
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- Dong Hui
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- Donlin Jeremy E.
- Dooley Kathy
- Dooling David
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- Doucette-Stamm Lynn
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- Dunn Anne
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- Dupes Alan
- Durbin Kenneth J.
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- Dwyer Ruth
- Dyer Lauren
- Dziuda Darius
- Earnhardt Christopher D.
- Earthrowl Mark
- Eastham Emma
- Eastham Timothy
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- Eckenberg Ralph
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- Evans Gareth
- Evans John
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- Hitchens Matthew Edward
- Ho Issac
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- Kube Michael
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- Wyatt Julia
- Wycoff-Montenegro Melissa
- Wylie Kris
- Wyman Dudley
- Wyman Stacia
- Xi Yan
- Xi Yingying
- Xie Fei
- Xie Gary
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- Xu Jing
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- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
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- Zhang Caimin
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- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers âŒ99% of the euchromatic genome and is accurate to an error rate of âŒ1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
- Author
- A Siddiq
- AC Antoniou
- AC Antoniou
- Adalgeir Arason
- Ake Borg
- AL Bane
- Alan Donaldson
- Alex Teulé
- Alfons Meindl
- AM Mulligan
- Amanda B Spurdle
- Amanda Ewart Toland
- Ana Osorio
- Anders Bojesen
- Andrea Gehrig
- Andreas Berger
- Andrew K Godwin
- Andrew Lee
- Angela Brady
- Anna Jakubowska
- Anna Marie Mulligan
- Anne Lincoln
- Anne-Marie Gerdes
- Anneliese Fink-Retter
- Annemarie H van der Hout
- Ans MW van den Ouweland
- Antonis C Antoniou
- Arjen R Mensenkamp
- Banu K Arun
- Barbara Wappenschmidt
- Bent Ejlertsen
- Bernard Peissel
- Bernardo Bonanni
- Beth Y Karlan
- Birgid Markiefka
- Breast Cancer Family Registry
- Brita Arver
- Bruno Buecher
- C Percy
- C Rigaud
- Carole Brewer
- Carolien HM van Deurzen
- Catherine M Phelan
- Cecilia M Dorfling
- Cezary Cybulski
- Christian F Singer
- Christian Sutter
- Christine Maugard
- Christine Rappaport
- Christoph Engel
- Claire Foo
- Claudine Isaacs
- Conxi Lazaro
- Cora M Aalfs
- Csilla I Szabo
- Curtis Olswold
- CĂ©drick Lefol
- D Gareth Evans
- Daniel Barrowdale
- Daphne Gschwantler Kaulich
- David E Goldgar
- Debra Frost
- Diana Eccles
- Dieter Niederacher
- Dominique Stoppa-Lyonnet
- Doris Steinemann
- Douglas F Easton
- DR Barnes
- Edith Olah
- Eitan Friedman
- Elizabeth J van Rensburg
- Emily Hallberg
- Etienne Rouleau
- Evgeny N Imyanitov
- Fabienne Prieur
- Fergus J Couch
- Finn C Nielsen
- Fiona Douglas
- FJ Couch
- FJ Couch
- Florentia Fostira
- Francesca Damiola
- Frans BL Hogervorst
- G Chenevix-Trench
- Gad Rennert
- Gaia Roversi
- Georg Pfeiler
- Georgia Chenevix-Trench
- Giulietta Scuvera
- Giuseppe Giannini
- Gord Glendon
- Gustavo C Rodriguez
- Hanne EJ Meijers-Heijboer
- Hans Ehrencrona
- Hansjoerg Plendl
- Heli Nevanlinna
- Ignacio Blanco
- Ilana Cass
- Inge Sokilde Pedersen
- Irene Konstantopoulou
- Irene L Andrulis
- Isaac Tafur
- Jacek Gronwald
- Jackie Cook
- Jacques Simard
- Jan Lubinski
- Javier Benitez
- JD French
- Jeffrey N Weitzel
- Jenny Lester
- JL de Lange
- Joe Dennis
- Johanna Rantala
- John Hays
- Joseph Vijai
- Judy Garber
- Julian Adlard
- Julian Barwell
- Julie Cunningham
- Juul T Wijnen
- K Lange
- K Michailidou
- Kai-ren Ong
- Karin Kast
- Karoline B Kuchenbaecker
- Katarzyna Durda
- Katarzyna Jaworska-Bieniek
- Katherine L Nathanson
- Kathleen Claes
- KB Kuchenbaecker
- Kenneth Offit
- KEP van Roozendaal
- Kerstin Rhiem
- KN Stevens
- Laima Tihomirova
- Laura Papi
- Laure Barjhoux
- Lauren Jacobs
- Laurence Faivre
- Lesley Andrews
- Lesley McGuffog
- Liliana Varesco
- Linda Steele
- Lisa Walker
- Louise Izatt
- Lucy E Side
- M Garcia-Closas
- M John Kennedy
- Mads Thomassen
- Manuel R Teixeira
- Marc Tischkowitz
- Marco Montagna
- Maria A Caligo
- Maria Grazia Tibiletti
- Marina Corines
- Marion Piedmonte
- Marjanka K Schmidt
- Mark H Greene
- Mark Robson
- Mark T Rogers
- Mary B Daly
- Mary Beth Terry
- Mary E Porteous
- Mary Hander
- Melissa Southey
- Mercedes Duran
- Michel Longy
- Miguel de la Hoya
- Mireia Menendez
- MJ Gaffey
- MM Gaudet
- Muy-Kheng Tea
- N Mavaddat
- Nadine Tung
- Nadja Bogdanova-Markov
- Nicolas Sevenet
- Niklas Loman
- Nina Ditsch
- Noralane Lindor
- Norbert Arnold
- Olga M Sinilnikova
- Olufunmilayo I Olopade
- Orland Diez
- Paolo Mariani
- Paolo Peterlongo
- Paolo Radice
- Patrick J Morrison
- Paul James
- PE Shrout
- Penny Soucy
- Phuong L Mai
- Raanan Berger
- Radka Platte
- Ramunas Janavicius
- Raymonda Varon-Mateeva
- Riccardo Dolcetti
- Rita K Schmutzler
- Rob B van der Luijt
- Robert L Nussbaum
- Ros Eeles
- Rosemarie Davidson
- Sara Volorio
- Saundra S Buys
- SE Bojesen
- Shan Wang-Gohrke
- Shirley Hodgson
- Simona Agata
- Siranoush Manoukian
- SN Stacey
- Sofia Khan
- SR Lakhani
- SR Lakhani
- Steve Ellis
- Steven Hart
- Sue Healey
- Susan J Ramus
- Susan L Neuhausen
- Susan M Domchek
- Susan Slager
- Sylvie Mazoyer
- T Sorlie
- Thomas v O Hansen
- Timothy R Rebbeck
- Tom Van Maerken
- Trinidad Caldes
- Uffe Birk Jensen
- Ute Hamann
- Valérie Bonadona
- Vernon S Pankratz
- Virginie Caux-Moncoutier
- Xianshu Wang
- Yael Laitman
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
- âŠ