8 research outputs found
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
- Author
- Adenis C. (Claude)
- Aittomäki K. (Kristiina)
- Andrulis I.L. (Irene)
- Anton-Culver H. (Hoda)
- Antoniou A.C. (Antonis)
- Arndt V. (Volker)
- Arun B.K. (Banu)
- Arver B. (Brita Wasteson)
- Asperen C.J. (Christi) van
- Ausems M.G.E.M. (Margreet)
- Bandera E.V. (Elisa)
- Barile M. (Monica)
- Barjhoux L. (Laure)
- Barkardottir R.B. (Rosa B.)
- Barouk-Simonet E. (Emmanuelle)
- Barrowdale D. (Daniel)
- Barwell J. (Julian)
- Baurand A. (Amandine)
- Beckmann M.W. (Matthias)
- Beesley J. (Jonathan)
- Belotti M. (Muriel)
- Benítez J. (Javier)
- Berchuck A. (Andrew)
- Berthet P. (Pascaline)
- Bertolone G. (Geoffrey)
- Bignon Y.-J. (Yves-Jean)
- Birot A.-M. (Anne-Marie)
- Bisogna M. (Maria)
- Bjorge L. (Line)
- Blomqvist C. (Carl)
- Blot W.J. (William)
- Bock G.H. (Geertruida) de
- Bogdanova N.V. (Natalia)
- Bojesen A. (Anders)
- Bojesen S.E. (Stig)
- Bolla M.K. (Manjeet K.)
- Bonadona V. (Valérie)
- Bonnani B. (Bernardo)
- Bonnet F. (Françoise)
- Borresen-Dale A.-L. (Anne-Lise)
- Bourdon V. (Violaine)
- Boutry-Kryza N. (N.)
- Bowtell D. (David)
- Brady A. (A.)
- Brauch H. (Hiltrud)
- Brennan P. (Paul)
- Brenner H. (Hermann)
- Bressac-de Paillerets B. (Brigitte)
- Bronner M. (Myriam)
- Bruinsma F. (Fiona)
- Brunet J. (Joan)
- Bubien V. (Virginie)
- Buecher B. (Bruno)
- Buhari S.A.B.S. (Shaik Ahmad Bin Syed)
- Burwinkel B. (Barbara)
- Butzow R. (Ralf)
- Buys S.S. (Saundra)
- Bézieau S. (Stéphane)
- Cai Q. (Qiuyin)
- Caldes T. (Trinidad)
- Calender A. (Alain)
- Campbell I. (Ian)
- Canniotto R. (Rikki)
- Caron O. (Olivier)
- Castera L. (Laurent)
- Chang-Claude J. (Jenny)
- Chenevix-Trench G. (Georgia)
- Chiquette J. (Jocelyne)
- Choi J.-Y. (Ji-Yeob)
- Claes K.B.M. (Kathleen B.M.)
- Colas C. (Chrystelle)
- Collonge-Rame M.-A.
- Collée J.M. (Margriet)
- Cook J. (Jackie)
- Cook L.S. (Linda S.)
- Coron F. (Fanny)
- Couch F.J. (Fergus)
- Coulet F. (Florence)
- Coupier I. (Isabelle)
- Cox A. (Angela)
- Cramer D.W. (Daniel)
- Cronenburg T.C.T.E.F. van
- Cross S.S. (Simon)
- Cybulski C. (Cezary)
- Czene K. (Kamila)
- Daly M.B. (Mary B.)
- Damette A. (Alexandre)
- Damiola F. (Francesca)
- Dansonka-Mieszkowska A. (Agnieszka)
- Darabi H. (Hatef)
- De Leeneer K. (Kim)
- DeFazio A. (Anna)
- Delgado M.K. (Melissa K.)
- Delnatte C.D. (Capucine)
- Dennis J. (Joe)
- Deurzen C.H.M. (Carolien) van
- Devilee P. (Peter)
- Doherty J.A. (Jennifer A.)
- Domchek S.M. (Susan)
- Donaldson A. (Alan)
- Dorfling C.M. (Cecilia)
- Dreyfus H. (Hélène)
- Dumont M. (Martine)
- Dunning A.M. (Alison)
- Díez O. (Orland)
- Dörk T. (Thilo)
- Eason J. (Jacqueline)
- Easton D.F. (Douglas F.)
- Edwards S.L. (Stacey)
- Ehrencrona H. (Hans)
- Ejlertsen B. (Bent)
- Elan C. (Camille)
- Ellis S.D. (Steve)
- Engel C. (Christoph)
- Evans D.G. (D. Gareth)
- Faivre L. (Laurence)
- Fasching P.A. (Peter)
- Feillel V. (Viviane)
- Feliubadaló L. (L.)
- Ferrer S.F.
- Figueroa J.D. (Jonine)
- Flesch-Janys D. (Dieter)
- Fletcher O. (Olivia)
- Flyger H. (Henrik)
- Foo C. (Claire)
- Foretova L. (Lenka)
- Fostira F. (Florentia)
- Foulkes W.D. (William)
- Fourme E. (Emmanuelle)
- Fournier J. (Joëlle)
- Fox S.B. (Stephen)
- Freedman M. (Matthew)
- French J.D. (Juliet)
- Fricker J.P. (Jean Pierre)
- Fridley B.L. (Brooke)
- Friedman E. (Eitan)
- Frost D. (Debra)
- Gambino G. (Gaetana)
- Ganz P.A. (Patricia A.)
- Garber J. (Judy)
- García-Closas M. (Montserrat)
- Gauthier-Villars M. (Marion)
- Gayther S.A. (Simon)
- Gentry-Maharaj A. (Aleksandra)
- Ghoussaini M. (Maya)
- Giles G.G. (Graham)
- Giraud S. (Sophie)
- Gladieff L. (Laurence)
- Glasspool R. (Rosalind)
- Godwin A.K. (Andrew K.)
- Goldberg M.S. (Mark)
- Goldgar D. (David)
- Golmard L. (Lisa)
- González-Neira A. (Anna)
- Goode E.L. (Ellen)
- Goodman M.T. (Marc)
- Greene M.H. (Mark H.)
- Gregory H. (Helen)
- Gronwald J. (Jacek)
- Guillaud-Bataille M. (Marine)
- Guimbaud R. (Rosine)
- Guénel P. (Pascal)
- Gómez García E.B. (Encarna)
- Haiman C.A. (Christopher A.)
- Hall P. (Per)
- Hallberg E. (Emily)
- Hamann U. (Ute)
- Hansen T.V.O. (Thomas)
- harrington P. (Patricia)
- Hartman J.M. (Joost)
- Hassan N. (Norhashimah)
- Healey S. (Sue)
- Heitz P.U.
- Henderson A. (Alex)
- Herzog J. (Josef)
- Hogervorst F.B.L. (Frans)
- Hollestelle A. (Antoinette)
- Hooning M.J. (Maartje)
- Hopper J.L. (John)
- Houdayer C. (Claude)
- Hoya M. (Miguel) de La
- Hulick P.J. (Peter)
- Huzarski T. (Tomasz)
- Høgdall C.K. (Claus)
- Høgdall E. (Estrid)
- Imyanitov E.N. (Evgeny)
- Isaacs C. (Claudine)
- Ito H. (Hidemi)
- Jacquot C. (Caroline)
- Jakubowska A. (Anna)
- Janavicius R. (Ramunas)
- Jensen A. (Allan)
- John E.M. (Esther)
- Johnson N. (Nichola)
- Kabisch M. (Maria)
- Kang D. (Daehee)
- Kapuscinski M.K. (Miroslav K.)
- Kar S. (Siddhartha)
- Karlan B.Y. (Beth Y.)
- Kennedy M.J. (John)
- Kets C.M. (Marleen)
- Khan S. (Sofia)
- Khanna K.K. (Kum Kum)
- Kiemeney L.A.L.M. (Bart)
- Kientz C. (Caroline)
- Kirk J. (Judy)
- Kjaer M. (Michael)
- Knight J.A. (Julia)
- Kolk L.E. (Lizet) van der
- Konstantopoulou I. (I.)
- Kosma V-M. (Veli-Matti)
- Kristensen V. (Vessela)
- Kuchenbaeker K. (Karoline)
- Kupryjanczyk J. (Jolanta)
- Kwong A. (Ava)
- Laitman Y. (Yael)
- Lalloo F. (Fiona)
- Lambrechts D. (Diether)
- Lange J.L. (J.) de
- Lasset C. (Christine)
- Laurent M. (Maïté)
- Lawrenson K. (Kate)
- Le Marchand L. (Loic)
- Le N.D. (Nhu D.)
- Lebrun M. (Marine)
- Lee E. (Eunjung)
- Lee J.M. (Janet M.)
- Leeuwen F.E. (Flora) van
- Leroux D. (Dominique)
- Lester K.J. (Kathryn)
- Lesueur F. (Fabienne)
- Levine D.A. (Douglas)
- Li J. (Jingmei)
- Li Q. (Qiyuan)
- Lindblom A. (Annika)
- Lindeman G.J. (Geoffrey)
- Lizard S. (Sarab)
- Long J. (Jirong)
- Longy M. (Michel)
- Lophatananon A. (Artitaya)
- Loud J.T. (Jennifer)
- Lu K.H. (Karen)
- Lubinski J. (Jan)
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- Monteiro A.N.A. (Alvaro N.)
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- Ness R.B. (Roberta)
- Neuhausen S.L. (Susan)
- Nevanlinna H. (Heli)
- Noguchi T. (Tetsuro)
- Nord S. (Silje)
- Nussbaum R.L. (Robert L.)
- O'Malley D.M. (David M.)
- Obdeijn A.I.M. (Inge-Marie)
- Odunsi K. (Kunle)
- Offit K. (Kenneth)
- Olah E.
- Olopade O.I. (Olufunmilayo I.)
- Olson J.E. (Janet)
- Olswold C. (Curtis)
- Oosterwijk J.C. (Jan)
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- Orr N. (Nick)
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- Park S.K. (Sue Kyung)
- Pauw A. (Antoine) de
- Pearce C.L. (Celeste)
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- Peyrat J.-P.
- Peysselon M. (Magalie)
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- Pharoah P.D.P. (Paul)
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- Pol C. (Carmen) van der
- Poole E.M. (Elizabeth)
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- Price M. (Melanie)
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- Pykäs K. (Katri)
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- Rantala J. (Johanna)
- Rashid M.U. (Muhammad)
- Rebischung C. (Christine)
- Remenieras A. (Audrey)
- Rennert G. (Gad)
- Rensburg E.J. (Elizabeth) van
- Rhenius V. (Valerie)
- Rhiem K. (Kerstin)
- Risch H. (Harvey)
- Rodriguez G.C. (Gustavo)
- Rogers M.T. (Mark)
- Rookus M.A. (Matti)
- Rossing M.A. (Mary Anne)
- Rouleau E. (Etienne)
- Rudolph A. (Anja)
- Russell N.S. (Nicola)
- Révillion F. (Françoise)
- Salvesen H.B. (Helga)
- Sangrajrang S. (Suleeporn)
- Saule C. (Claire)
- Sawyer E.J. (Elinor J.)
- Schildkraut J.M. (Joellen)
- Schmidt M.K. (Marjanka)
- Schmidt M.K. (Marjanka)
- Schmutzler R.K. (Rita)
- Sellers T.A. (Thomas A.)
- Sevenet N. (Nicolas)
- Seynaeve C.
- Seynaeve C.M. (Caroline)
- Shah M. (Mitul)
- Shen C.-Y. (Chen-Yang)
- Shu X.-O. (Xiao-Ou)
- Side L. (Lucy)
- Sieh W. (Weiva)
- Siesling S.
- Simard J. (Jacques)
- Singer C.F. (Christian)
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- Snape K. (Katie)
- Sobol H. (Hagay)
- Sokolowska J. (Johanna)
- Song H. (Honglin)
- Soubrier F.
- Soucy P. (Penny)
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- Stenmark-Askmalm M. (Marie)
- Stoppa-Lyonnet D. (Dominique)
- Sutter C. (Christian)
- Swerdlow A.J. (Anthony )
- Tchatchou S. (Sandrine)
- Teixeira P.J.
- Teo S.-H. (Soo-Hwang)
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- Terry M.B. (Mary Beth)
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- Tibiletti M.G. (Maria Grazia)
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- Tollenaar R.A.E.M. (Rob)
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- Torres D. (Diana)
- Toulas C. (Christine)
- Truong T. (Thérèse)
- Tseng C.-C. (Chiu-Chen)
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- Tworoger S.S. (Shelley S.)
- Tyrer J.P. (Jonathan)
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- Vachon C. (Celine)
- Van Den Ouweland A.M.W. (Ans M.W.)
- Van Doorn H.C. (Helena C.)
- Vanderstichele A. (Adriaan)
- Vasen H. (Hans)
- Vaur D. (Dominique)
- Veer L.J. (Laura) van 't
- Vergote I. (Ignace)
- Verloop J.
- Verny-Pierre C. (Carole)
- Vijai J. (Joseph)
- Vénat-Bouvet L. (Laurence)
- Waisfisz Q. (Quinten)
- Walker L.J. (Lisa)
- Wang Q. (Qin)
- Wang-Gohrke S. (Shan)
- Warcoin M. (Mathilde)
- Webb P. (Penny)
- Weitzel J.N. (Jeffrey)
- Wentzensen N. (N.)
- Whittemore A.S. (Alice)
- Wijnands R.
- Wildiers H. (Hans)
- Winqvist R. (Robert)
- Wu A.H. (Anna)
- Yannoukakos D. (Drakoulis)
- Yoon S.-Y. (Sook-Yee)
- Yu J-C. (Jyh-Cherng)
- Zheng W. (Wei)
- Zheng Y. (Ying)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 07/09/2016
- Field of study
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
- Author
- Aalfs C.M. (Cora)
- Adamo P. (Pio) d'
- Adank M.A. (Muriel)
- Adenis C. (Claude)
- Adlard J.W. (Julian)
- Agata S. (Simona)
- Ahearn T. (Thomas)
- Aittomäki K. (Kristiina)
- Andrieu N. (Nadine)
- Andrulis I.L. (Irene L.)
- Anton-Culver H. (Hoda)
- Antoniou A.C. (Antonis C.)
- Arndt V. (Volker)
- Arnold N. (Norbert)
- Aronson K.J. (Kristan J.)
- Arun B.K. (Banu)
- Augustinsson A. (Annelie)
- Ausems M.G.E.M. (Margreet)
- Azzollini J.
- Barjhoux L. (Laure)
- Barnes D. (Daniel)
- Barouk-Simonet E. (Emmanuelle)
- Barrowdale D. (Daniel)
- Barwell J. (Julian)
- Baurand A. (Amandine)
- Baxter R. (Robert)
- Baynes C. (Caroline)
- Becher H. (Heko)
- Beesley J. (Jonathan)
- Belotti M. (Muriel)
- Bermisheva M. (Marina)
- Bernstein L. (Leslie)
- Berthet P. (Pascaline)
- Bertolone G. (Geoffrey)
- Bertrand O. (Ophélie)
- Białkowska K. (Katarzyna)
- Bignon Y.-J. (Yves-Jean)
- Birot A.-M. (Anne-Marie)
- Blok M.J. (Marinus J.)
- Blomqvist C. (Carl)
- Bock G.H. (Geertruida) de
- Bojesen S.E. (Stig)
- Bolla M.K. (Manjeet K.)
- Bonadona V. (Valérie)
- Bonnani B. (Bernardo)
- Bonnet F. (Françoise)
- Borg Å. (Åke)
- Bourdon V. (Violaine)
- Boutry-Kryza N. (N.)
- Bowtell D. (David)
- Brady A. (A.)
- Brauch H. (Hiltrud)
- Brenner H. (Hermann)
- Bressac-de Paillerets B. (Brigitte)
- Brewer C. (Carole)
- Bronner M. (Myriam)
- Bubien V. (Virginie)
- Buecher B. (Bruno)
- Burwinkel B. (Barbara)
- Buys S.S. (Saundra S.)
- Bézieau S. (Stéphane)
- Caldes T. (Trinidad)
- Calender A. (Alain)
- Caligo M.A. (Maria A.)
- Campa D. (Daniele)
- Campbell I. (Ian)
- Caputo S. (Sandrine)
- Caron O. (Olivier)
- Carpenter T.A. (Adrian)
- Carter B.D. (Brian D.)
- Castelao J.E. (Jose )
- Castera L. (Laurent)
- Chang-Claude J. (Jenny)
- Chanock S.J. (Stephen J.)
- Chenevix-Trench G. (Georgia)
- Chiesa J. (Jean)
- Chung W.K. (Wendy K.)
- Claes K.B.M. (Kathleen B. M.)
- Clarke C. (Christine)
- Clarke C.L. (Christine L.)
- Coignard J. (Juliette)
- Colas C. (Chrystelle)
- Collonge-Rame M.-A.
- Collée J.M. (J. Margriet)
- Collée J.M. (J. Margriet)
- Conroy D.M. (Don M.)
- Cook J. (Jackie)
- Coron F. (Fanny)
- Couch F.J. (Fergus)
- Coulet F. (Florence)
- Coupier I. (Isabelle)
- Cronenburg T.C.T.E.F. van
- Czene K. (Kamila)
- Daly M.B. (Mary B.)
- Damette A. (Alexandre)
- Damiola F. (Francesca)
- Davidson R. (Rosemarie)
- Davis A. (Alison)
- De Fazio A. (Anna)
- de Pauw A. (Antoine)
- Deb S. (Sid)
- Delnatte C. (Capucine)
- Dennis J. (Joe)
- Deurzen C.H.M. (Carolien) van
- Devilee P. (Peter)
- Diez O. (Orland)
- Ding Y.C. (Yuan Chun)
- Domchek S.M. (Susan)
- Donaldson A. (Alan)
- Dreyfus H. (Hélène)
- Dumont A. (Aurélie)
- Dunning A.M. (Alison M.)
- Dupré A. (Anaïs)
- Dwek M. (Miriam)
- Dörk T. (Thilo)
- Eason J. (Jacqueline)
- Eccles D. (Diana)
- Eccles D.M. (Diana M.)
- Eeles R. (Rosalind)
- Eliassen A.H. (A. Heather)
- Engel C. (Christoph)
- Eriksson M. (Mikael)
- Evans D.G. (D. Gareth)
- Faivre L. (Laurence)
- Fasching P.A. (Peter)
- Feillel V. (Viviane)
- Ferrer S.F.
- Floris O.A.M.
- Flyger H. (Henrik)
- Foo C. (Claire)
- Fostira F. (Florentia)
- Fourme E. (Emmanuelle)
- Fox S.B. (Stephen)
- Friedman E. (Eitan)
- Fritschi L. (Lin)
- Frost D. (Debra)
- Gago-Dominguez M. (Manuela)
- Gapstur S.M. (Susan M.)
- Garber J. (Judy)
- Garcia-Barberan V. (Vanesa)
- García-Closas M. (Montserrat)
- García-Sáenz J.A. (José A.)
- Gaudet M.M. (Mia M.)
- Gauthier-Villars M. (Marion)
- Gayther S.A. (Simon)
- Gehrig A. (Andrea)
- Georgoulias V. (Vassilios)
- Gesta P. (Paul)
- Giles G.G. (Graham G.)
- Gille J.J.P. (J. J.P.)
- Giraud S. (Sophie)
- Gladieff L. (Laurence)
- Godwin A.K. (Andrew K.)
- Goldberg M.S. (Mark)
- Golmard L. (Lisa)
- González-Neira A. (Anna)
- Graham D. (Dinny)
- Greene M.H. (Mark H.)
- Gregory H. (Helen)
- Guillaud-Bataille M. (Marine)
- Guimbaud R. (Rosine)
- Guénel P. (Pascal)
- Gómez Garcia E.B. (Encarna B.)
- Haeberle L. (Lothar)
- Hahnen E. (Eric)
- Haiman C.A. (Christopher)
- Hall P. (Per)
- Hamann U. (Ute)
- Harrington P.A. (Patricia A.)
- Hart S.N. (Steven N.)
- He W. (Wei)
- Henderson A. (Alex)
- Hogervorst F.B.L. (Frans B. L.)
- Hollestelle A. (Antoinette)
- Hooning M.J. (Maartje)
- Hopper J.L. (John)
- Horcasitas D.J. (Darling J.)
- Houdayer C. (Claude)
- Hout A.H. (Annemarie) van der
- Hulick P.J. (Peter J.)
- Hunter D.J. (David J.)
- Håkansson N. (Niclas)
- Imyanitov E.N. (Evgeny)
- Ingster O. (Olivier)
- Izatt L. (Louise)
- Jacquot C. (Caroline)
- Jager A. (Agnes)
- Jakubowska A. (Anna)
- James M. (Margaret)
- Jensen U.B. (Uffe Birk)
- John E.M. (Esther)
- Jones M.E. (Michael E.)
- Joseph V. (Vijai)
- Kaaks R. (Rudolf)
- Kapoor P.M. (Pooja Middha)
- Karlan B.Y. (Beth)
- Keeman R. (Renske)
- Kennedy M.J. (M. John)
- Kets C.M. (Marleen)
- Khusnutdinova E.K. (Elza)
- Kientz C. (Caroline)
- Kiiski J.I. (Johanna I.)
- Kirk J. (Judy)
- Ko Y.-D. (Yon-Dschun)
- Kolk L.E. (Lizet) van der
- Kosma V.-M. (Veli-Matti)
- Kraft P. (Peter)
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- Laitman Y. (Yael)
- Lallaoui H. (Hakima)
- Lalloo F. (Fiona)
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- Lasset C. (Christine)
- Le Marchand L. (Loic)
- Le Mentec M. (Marine)
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- Leeuwen F.E. (Flora) van
- Leroux D. (Dominique)
- Leslie G. (Goska)
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- Lesueur F. (Fabienne)
- Lindeman G.J. (Geoffrey)
- Lindstrom T. (Tricia)
- Lizard S. (Sarab)
- Longy M. (Michel)
- Lopez-Fernández A. (Adria)
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- Lush M. (Michael)
- Léone M. (Mélanie)
- Mannermaa A. (Arto)
- Manoukian S. (Siranoush)
- Margolin S. (Sara)
- Mari V. (Véronique)
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- Mebirouk N. (Noura)
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- Meindl A. (Alfons)
- Mensenkamp A.R. (Arjen R.)
- Miedzybrodzka Z. (Zosia)
- Miller A. (Austin)
- Milne R.L. (Roger L.)
- Milne R.L. (Roger)
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- Montagna M. (Marco)
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- Mortemousque I. (Isabelle)
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- Muller D.W. (Danièle)
- Murray A. (Alexandra)
- Nathanson K.L. (Katherine)
- Nevanlinna H. (Heli)
- Nielsen F.C. (Finn C.)
- Noguchi T. (Tetsuro)
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- Obdeijn A.I.M. (Inge-Marie)
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- Ottini L. (Laura)
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- Overbeek L.I.H. (Lucy)
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- Polley E.C. (Eric C.)
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- Révillion F. (Françoise)
- Sachchithananthan M. (Mythily)
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- Yannoukakos D. (Drakoulis)
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 17/02/2021
- Field of study
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers
Healthy brain, healthy life: a review of diet and exercise interventions to promote brain health and reduce Alzheimer’s disease risk
- Author
- Publication venue
- 'Canadian Science Publishing'
- Publication date
- Field of study
Granular temperature in a gas fluidized bed
- Author
- A. Armanini
- A. Ishimaru
- A.A. Boateng
- A.R. Abate
- A.T.H. Perng
- Alex Buts
- B. Spinewine
- C. Huan
- C.H. Tai
- C.K.K. Lun
- C.S. Campbell
- D. Geldart
- D. Gidaspow
- D. Gidaspow
- D.A. Weitz
- D.L. Blair
- D.M. Hanes
- Don Glass
- E. Azanza
- E. Falcon
- G. D’Anna
- G.D. Cody
- G.K. Batchelor
- G.W. Baxter
- G.Y. Zhao
- H. Ahn
- H. Grad
- H.S. Tan
- J. Ding
- J. Jung
- J.H. Li
- J.M. Valverde
- J.T. Jenkins
- K. Kim
- L. Xie
- L. Xie
- M. A. Curt Kounders
- M. Biggs
- M. Biggs
- M. Tartan
- M.Y. Louge
- Mark J. Biggs
- N. Menon
- N. Menon
- P. Mayor
- P. Mayor
- P.A. Lemieux
- R.D. Wildman
- R.D. Wildman
- R.D. Wildman
- R.D. Wildman
- S. Bhusarapu
- S. Chapman
- S. Longo
- S. Morooka
- S. Ogawa
- S. Ogawa
- S. Warr
- S.S. Hsiau
- S.S. Hsiau
- S.S. Hsiau
- S.S. Hsiau
- T.G. Drake
- V.V.R. Natarajan
- V.V.R. Natarajan
- Vladimir Zivkovic
- W. Bi
- W. Leutz
- W. Losert
- W. Polashenski
- W.L. Hsiau
- W.L. Yang
- X. Yang
- Z. Wang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2008
- Field of study
© Springer-Verlag 2007Mark J. Biggs, Don Glass, L. Xie, Vladimir Zivkovic, Alex Buts and M. A. Curt Kounder
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
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- Aaltonen L.
- Aaltonen V.
- Agee M.
- Akafo Stephen
- Akiyama Masato
- allen N.
- Allingham R.R.
- Amersinghe Nishani
- Arvas M.
- Asai S.
- Ashaye Adeyinka
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- Atan D.
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- Chen C.-Y.
- Chen H.
- Chen H.
- Chen Li Jia
- Chen X.
- Cheng Ching-Yu
- Chhibber A.
- Choquet Helene
- Chu A.
- Cipriani V.
- Clark S.K.
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- Cooke Bailey J.N.
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- Cree Angela J.
- Crohns M.
- Currant Hannah
- Dada A.
- Daida H.
- Davis J.W.
- Day A.
- Della Briotta Parolo P.
- Desai P.
- Dhillon B.
- Dick A.
- Diogo D.
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- Eaton S.
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- Elenius K.
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- Gibson J.
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- Gordillo J.E.
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- Gormley P.
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- Graham S.L.
- Greenberg S.
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- Haines Jonathan L.
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- Hardcastle A.
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- Hauser Michael
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- Palotie Aarno
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- Podgornaia A.
- Poplawski Alicia
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- Shiga Yukihiro
- Shiono M.
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- Siggs Owen M.
- Siirtola H.
- Simcoe Mark
- Singh K.
- Sinisalo J.
- Sipilä T.
- Sipilä T.P.
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- Sivaprasad S.
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- Steel D.
- Stratton I.
- Strauss E.
- Strouthidis Nicholas G.
- Strouthidis Nicholas G.
- Sudlow C.
- Sugimoto Y.
- Tabuenca J.G.
- Takahashi Y.
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- Tamiya Gen
- Tanaka T.
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- Thaung C.
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- Thomas D.
- Tian C.
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- Tufail A.
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- Viswanathan A.
- Vitart Veronique
- Vithana Eranga Nishanthie
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- Wang Xin
- Wang Xin
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- Wu Y.
- Xu E.
- Xu F.
- Yamada A.
- Yamagata Z.
- Yamamoto Masayuki
- Yanaiag H.
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- Zhou W.
- Ziemann A.
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 24/02/2021
- Field of study
10.1038/s41467-020-20851-4Nature Communications121125
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes
- Author
- Abecasis G. (Goncalo)
- Abecasis G.R. (Gonçalo)
- Abecasis G.R. (Gonçalo)
- Aben K.K.H. (Katja)
- Absher D. (Devin)
- Absher D. (Devin)
- Aherrahrou Z. (Zouhair)
- Ahlqvist E. (Emma)
- Ahmadi K.R. (Kourosh)
- Ahmed N. (Nabeel)
- Alavere H. (Helene)
- Alibrandi M.T.S. (Maria)
- Allayee H. (Hooman)
- Allen H.L.
- Almgren P. (Peter)
- Altshuler D. (David)
- Amin N. (Najaf)
- Anand S.S. (Sonia)
- Andersen K.K. (Karl)
- Ardissino D. (Diego)
- Ardlie K.G. (Kristin)
- Armitage J. (Jane)
- Arnold A.M. (Alice)
- Aspelund T. (Thor)
- Assimes T.L. (Themistocles)
- Assmann G. (Gerd)
- Aulchenko Y.S. (Yurii)
- Azhar M. (Muhammad)
- Balkau B. (Beverley)
- Ball S.G. (Stephen G.)
- Barbalic M. (maja)
- Barker A.M. (Adam)
- Barlassina C. (Christina)
- Barlera S. (Simona)
- Barnes D. (Daniel)
- Barnes T.A. (Timothy)
- Barrett A. (Angela)
- Barroso I.E. (Inês)
- Bataille V. (Veronique)
- Becker D.M. (Diane)
- Becker L.C. (Lewis)
- Beckmann J.S. (Jacques)
- Beckmann J.S. (Jacques)
- Beilby J.P. (John)
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- Zhang W. (Weihua)
- Zhao J.H. (Jing Hua)
- Ziegler A. (Andreas)
- Ziegler A. (Andreas)
- Zillikens M.C. (Carola)
- Zitting P. (Paavo)
- Zondervan K.T. (Krina T.)
- Zondervan K.T. (Krina)
- Zwart J-A. (John-Anker)
- Öhrvik J. (John)
- Östenson C.-G. (Claes-Göran)
- Publication venue
- Publication date
- 01/10/2011
- Field of study
OBJECTIVE - Proinsulin is a precursor of mature insulin and C-peptide. Higher circulating proinsulin levels are associated with impaired b-cell function, raised glucose levels, insulin resistance, and type 2 diabetes (T2D). Studies of the insulin processing pathway could provide new insights about T2D pathophysiology. RESEARCH DESIGN AND METHODS - We have conducted a meta-analysis of genome-wide association tests of ;2.5 million genotyped or imputed single nucleotide polymorphisms (SNPs) and fasting proinsulin levels in 10,701 nondiabetic adults of European ancestry, with follow-up of 23 loci in up to 16,378 individuals, using additive genetic models adjusted for age, sex, fasting insulin, and study-specific covariates. RESULTS - Nine SNPs at eight loci were associated with proinsulin levels (P < 5 × 10-8). Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits, one (MADD) has been associated with fasting glucose, one (PCSK1) has been implicated in obesity, and four (TCF7L2, SLC30A8, VPS13C/ C2CD4A/B, and ARAP1, formerly CENTD2) increase T2D risk. The proinsulin-raising allele of ARAP1 was associated with a lower fasting glucose (P = 1.7 3 10-4), improved b-cell function (P = 1.1 × 10-5), and lower risk of T2D (odds ratio 0.88; P = 7.8 × 10-6). Notably, PCSK1 encodes the protein prohormone convertase 1/3, the first enzyme in the insulin processing pathway. A genotype score composed of the nine proinsulin-raising alleles was not associated with coronary disease in two large case-control datasets. CONCLUSIONS - We have identified nine genetic variants associated with fasting proinsulin. Our findings illuminate the biology underlying glucose homeostasis and T2D development in humans and argue against a direct role of proinsulin in coronary artery disease pathogenesis
Direct observation of the dead-cone effect in quantum chromodynamics
- Author
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- Vislavicius Vytautas
- Vodopyanov A.
- Vodopyanov A.
- Vodopyanov Alexander
- Volkel B.
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- Volkel Benedikt
- Volkl M.A.
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- Voloshin K.
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- Voloshin Kirill
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- Voloshin Sergey
- Volpe G.
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- von Haller B.
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- Von Haller Barthelemy
- Vorobyev I.
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- Vorobyev Ivan
- Voscek D.
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- Voscek Dominik
- Vozniuk N.
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- Vozniuk Nikita
- Vrlakova J.
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- Wagner B.
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- Wagner Boris
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- Weber Michael
- Weelden R.J. G.V.
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- Wegrzynek A.
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- Wegrzynek Adam Tadeusz
- Wenzel S.C.
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- Wenzel Sandro Christian
- Wessels J.P.
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- Windelband Bernd Stefan
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- Winn Michael Andreas
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- Witt William Edward
- Wright J.R.
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- Wright Josephina Rae
- Wu W.
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- Wu Wenya
- Wu Y.
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- Wu Yitao
- Xu R.
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- Xu Ran
- Yalcin Kuzu Serpil
- Yalcin S.
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- Yamaguchi Y.
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- Yamaguchi Yorito
- Yamakawa K.
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- Yang S.
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- Yang Shiming
- Yano S.
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- Yano Satoshi
- Yin Z.
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- Yokoyama H.
- Yokoyama H.
- Yokoyama Hiroki
- Yoo I.K.
- Yoo I.K.
- Yoo In Kwon
- Yoon J.H.
- Yoon J.H.
- Yoon Jin Hee
- Yu Zhi
- Yuan S.
- Yuan S.
- Yuan Shiming
- Yuncu A.
- Yuncu A.
- Yuncu Alperen
- Zaccolo V.
- Zaccolo V.
- Zaccolo Valentina
- Zaman A.
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- Zaman Ali
- Zampolli C.
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- Zampolli Chiara
- Zanoli H.J. C.
- Zanoli H.J. C.
- Zardoshti N.
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- Zardoshti Nima
- Zarochentsev A.
- Zarochentsev A.
- Zarochentsev Andrey
- Zavada P.
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- Zavada Petr
- Zaviyalov N.
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- Zavyalov Nikolay
- Zbroszczyk H.
- Zbroszczyk H.
- Zbroszczyk Hanna Paulina
- Zhalov M.
- Zhalov M.
- Zhalov Mikhail
- Zhang S.
- Zhang S.
- Zhang Song
- Zhang X.
- Zhang X.
- Zhang Xiaoming
- Zhang Y.
- Zhang Y.
- Zhang Yifei
- Zherebchevskii V.
- Zherebchevskii V.
- Zherebchevskii Vladimir
- Zhi Y.
- Zhi Y.
- Zhigareva N.
- Zhigareva N.
- Zhigareva Natalia
- Zhou D.
- Zhou D.
- Zhou Daicui
- Zhou Y.
- Zhou Y.
- Zhou You
- Zhu J.
- Zhu J.
- Zhu Jianhui
- Zhu Y.
- Zhu Y.
- Zhu Ya
- Zichichi A.
- Zichichi A.
- Zichichi Antonino
- Zinovjev G.
- Zinovjev G.
- Zinovjev Gennady
- Zurlo N.
- Zurlo N.
- Zurlo Nicola
- Šafařík K.
- Šafařík K.
- Šerkšnytė L.
- Šerkšnytė L.
- Šumbera M.
- Šumbera M.
- Publication venue
- Publication date
- 10/06/2021
- Field of study
At particle collider experiments, elementary particle interactions with large momentum transfer produce quarks and gluons (known as partons) whose evolution is governed by the strong force, as described by the theory of quantum chromodynamics (QCD) [1]. The vacuum is not transparent to the partons and induces gluon radiation and quark pair production in a process that can be described as a parton shower [2]. Studying the pattern of the parton shower is one of the key experimental tools in understanding the properties of QCD. This pattern is expected to depend on the mass of the initiating parton, through a phenomenon known as the dead-cone effect, which predicts a suppression of the gluon spectrum emitted by a heavy quark of mass m and energy E, within a cone of angular size m/E around the emitter [3]. A direct observation of the dead-cone effect in QCD has not been possible until now, due to the challenge of reconstructing the cascading quarks and gluons from the experimentally accessible bound hadronic states. Here we show the first direct observation of the QCD dead-cone by using new iterative declustering techniques [4, 5] to reconstruct the parton shower of charm quarks. This result confirms a fundamental feature of QCD, which is derived more generally from its origin as a gauge quantum field theory. Furthermore, the measurement of a dead-cone angle constitutes the first direct experimental observation of the non-zero mass of the charm quark, which is a fundamental constant in the standard model of particle physics.The direct measurement of the QCD dead cone in charm quark fragmentation is reported, using iterative declustering of jets tagged with a fully reconstructed charmed hadron.In particle collider experiments, elementary particle interactions with large momentum transfer produce quarks and gluons (known as partons) whose evolution is governed by the strong force, as described by the theory of quantum chromodynamics (QCD). These partons subsequently emit further partons in a process that can be described as a parton shower which culminates in the formation of detectable hadrons. Studying the pattern of the parton shower is one of the key experimental tools for testing QCD. This pattern is expected to depend on the mass of the initiating parton, through a phenomenon known as the dead-cone effect, which predicts a suppression of the gluon spectrum emitted by a heavy quark of mass mQ and energy E, within a cone of angular size mQ/E around the emitter. Previously, a direct observation of the dead-cone effect in QCD had not been possible, owing to the challenge of reconstructing the cascading quarks and gluons from the experimentally accessible hadrons. We report the direct observation of the QCD dead cone by using new iterative declustering techniques to reconstruct the parton shower of charm quarks. This result confirms a fundamental feature of QCD. Furthermore, the measurement of a dead-cone angle constitutes a direct experimental observation of the non-zero mass of the charm quark, which is a fundamental constant in the standard model of particle physics