5 research outputs found
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
- Author
- ABCTB Investigators
- Adank Muriel A
- Agata Simona
- Ahearn Thomas
- AittomÀki Kristiina
- Andrieu Nadine
- Andrulis Irene L
- Anton-Culver Hoda
- Antoniou Antonis C
- Arndt Volker
- Arnold Norbert
- Aronson Kristan J
- Arun Banu K
- Augustinsson Annelie
- Azzollini Jacopo
- Barnes Daniel R
- Barrowdale Daniel
- Baynes Caroline
- Becher Heiko
- Beesley Jonathan
- Bermisheva Marina
- Bernstein Leslie
- BiaĆkowska Katarzyna
- Blomqvist Carl
- Bojesen Stig E
- Bolla Manjeet K
- Bonanni Bernardo
- Borg Ake
- Brauch Hiltrud
- Brenner Hermann
- Burwinkel Barbara
- Buys Saundra S
- Caldés Trinidad
- Caligo Maria A
- Campa Daniele
- Carter Brian D
- Castelao Jose E
- Chang-Claude Jenny
- Chanock Stephen J
- Chenevix-Trench Georgia
- Chung Wendy K
- Claes Kathleen BM
- Clarke Christine L
- Coignard Juliette
- Collée J Margriet
- Conroy Don M
- Couch Fergus J
- Czene Kamila
- Daly Mary B
- Dennis Joe
- Devilee Peter
- Diez Orland
- Ding Yuan Chun
- Domchek Susan M
- Dos-Santos-Silva Isabel
- Dunning Alison M
- Dwek Miriam
- Dörk Thilo
- Easton Douglas F
- Eccles Diana M
- Eliassen A Heather
- EMBRACE Collaborators
- Engel Christoph
- Eriksson Mikael
- Evans D Gareth
- Fasching Peter A
- Flyger Henrik
- Fostira Florentia
- Friedman Eitan
- Fritschi Lin
- Frost Debra
- Gago-Dominguez Manuela
- Gapstur Susan M
- Garber Judy
- Garcia-Barberan Vanesa
- GarcĂa-Closas Montserrat
- GarcĂa-SĂĄenz JosĂ© A
- Gaudet Mia M
- Gayther Simon A
- Gehrig Andrea
- GEMO Study Collaborators
- Georgoulias Vassilios
- Giles Graham G
- Godwin Andrew K
- Goldberg Mark S
- Goldgar David E
- GonzĂĄlez-Neira Anna
- Greene Mark H
- Guénel Pascal
- Haeberle Lothar
- Hahnen Eric
- Haiman Christopher A
- Hall Per
- Hamann Ute
- Harrington Patricia A
- Hart Steven N
- He Wei
- HEBON Investigators
- Hogervorst Frans BL
- Hollestelle Antoinette
- Hopper John L
- Horcasitas Darling J
- Hulick Peter J
- Hunter David J
- HĂ„kansson Niclas
- Imyanitov Evgeny N
- Jager Agnes
- Jakubowska Anna
- James Paul A
- Jensen Uffe Birk
- John Esther M
- Jones Michael E
- Kaaks Rudolf
- Kapoor Pooja Middha
- Karlan Beth Y
- KConFab Investigators
- Keeman Renske
- Khusnutdinova Elza
- Kiiski Johanna I
- Ko Yon-Dschun
- Kosma Veli-Matti
- Kraft Peter
- Kurian Allison W
- Laitman Yael
- Lambrechts Diether
- Le Marchand Loic
- Leslie Goska
- Lester Jenny
- Lesueur Fabienne
- Lindstrom Tricia
- Lopez-FernĂĄndez Adria
- Loud Jennifer T
- Luccarini Craig
- Lush Michael
- Mannermaa Arto
- Manoukian Siranoush
- Margolin Sara
- Martens John WM
- McGuffog Lesley
- Mebirouk Noura
- Meindl Alfons
- Miller Austin
- Milne Roger L
- Montagna Marco
- Nathanson Katherine L
- Neuhausen Susan L
- Nevanlinna Heli
- Nielsen Finn C
- O'Brien Katie M
- O'Mara Tracy A
- Offit Kenneth
- Olopade Olufunmilayo I
- Olson Janet E
- Olsson HĂ„kan
- Osorio Ana
- Ottini Laura
- Park Sue K
- Park-Simon Tjoung-Won
- Parsons Michael T
- Pedersen Inge Sokilde
- Peshkin Beth
- Peterlongo Paolo
- Peto Julian
- Pharoah Paul DP
- Phillips Kelly-Anne
- Polley Eric C
- Poppe Bruce
- Presneau Nadege
- Pujana Miquel Angel
- Punie Kevin
- Radice Paolo
- Rantala Johanna
- Rashid Muhammad U
- Rennert Gad
- Rennert Hedy S
- Robson Mark
- Romero Atocha
- Rossing Maria
- Saloustros Emmanouil
- Sandler Dale P
- Santella Regina
- Scheuner Maren T
- Schmidt Gunnar
- Schmidt Marjanka K
- Schmutzler Rita K
- Scott Christopher
- Sharma Priyanka
- Simard Jacques
- Soucy Penny
- Southey Melissa C
- Spinelli John J
- Steinsnyder Zoe
- Stone Jennifer
- Stoppa-Lyonnet Dominique
- Swerdlow Anthony
- Tamimi Rulla M
- Tapper William J
- Taylor Jack A
- Terry Mary Beth
- Teulé Alex
- Thomassen Mads
- Thull Darcy L
- Tischkowitz Marc
- Toland Amanda E
- Torres Diana
- Trainer Alison H
- Truong ThérÚse
- Tung Nadine
- Tyrer Jonathan P
- Vachon Celine M
- Vega Ana
- Vijai Joseph
- Wang Qin
- Wappenschmidt Barbara
- Weinberg Clarice R
- Weitzel Jeffrey N
- Wendt Camilla
- Wolk Alicja
- Yadav Siddhartha
- Yang Xiaohong R
- Yannoukakos Drakoulis
- Zheng Wei
- Ziogas Argyrios
- Zorn Kristin K
- Publication venue
- Nat Commun
- Publication date
- 01/01/2021
- 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, Pâ<â10-8, 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
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
- Author
- ABCTB Investigators
- ABCTB Investigators
- Adank Muriel A
- Agata Simona
- Ahearn Thomas
- AittomÀki Kristiina
- Andrieu Nadine
- Andrulis Irene L
- Anton-Culver Hoda
- Antoniou Antonis C
- Arndt Volker
- Arnold Norbert
- Aronson Kristan J
- Arun Banu K
- Augustinsson Annelie
- Azzollini Jacopo
- Barnes Daniel R
- Barrowdale Daniel
- Baynes Caroline
- Becher Heko
- Beesley Jonathan
- Bermisheva Marina
- Bernstein Leslie
- BiaĆkowska Katarzyna
- Blomqvist Carl
- Bojesen Stig E
- Bolla Manjeet K
- Bonanni Bernardo
- Borg Ake
- Brauch Hiltrud
- Brenner Hermann
- Burwinkel Barbara
- Buys Saundra S
- Caldés Trinidad
- Caligo Maria A
- Campa Daniele
- Carter Brian D
- Castelao Jose E
- Chang-Claude Jenny
- Chanock Stephen J
- Chenevix-Trench Georgia
- Chung Wendy K
- Claes Kathleen BM
- Clarke Christine L
- Coignard Juliette
- Collée J Margriet
- Conroy Don M
- Couch Fergus J
- Czene Kamila
- Daly Mary B
- Dennis Joe
- Devilee Peter
- Diez Orland
- Ding Yuan Chun
- Domchek Susan M
- Dos-Santos-Silva Isabel
- Dunning Alison M
- Dwek Miriam
- Dörk Thilo
- Easton Douglas F
- Eccles Diana M
- Eliassen A Heather
- EMBRACE Collaborators
- EMBRACE Collaborators
- Engel Christoph
- Eriksson Mikael
- Evans D Gareth
- Fasching Peter A
- Flyger Henrik
- Fostira Florentia
- Friedman Eitan
- Fritschi Lin
- Frost Debra
- Gago-Dominguez Manuela
- Gapstur Susan M
- Garber Judy
- Garcia-Barberan Vanesa
- GarcĂa-Closas Montserrat
- GarcĂa-SĂĄenz JosĂ© A
- Gaudet Mia M
- Gayther Simon A
- Gehrig Andrea
- GEMO Study Collaborators
- GEMO Study Collaborators
- Georgoulias Vassilios
- Giles Graham G
- Godwin Andrew K
- Goldberg Mark S
- Goldgar David E
- GonzĂĄlez-Neira Anna
- Greene Mark H
- Guénel Pascal
- Haeberle Lothar
- Hahnen Eric
- Haiman Christopher A
- Hall Per
- Hamann Ute
- Harrington Patricia A
- Hart Steven N
- He Wei
- HEBON Investigators
- HEBON Investigators
- Hogervorst Frans BL
- Hollestelle Antoinette
- Hopper John L
- Horcasitas Darling J
- Hulick Peter J
- Hunter David J
- HĂ„kansson Niclas
- Imyanitov Evgeny N
- Jager Agnes
- Jakubowska Anna
- James Paul A
- Jensen Uffe Birk
- John Esther M
- Jones Michael E
- Kaaks Rudolf
- Kapoor Pooja Middha
- Karlan Beth Y
- KConFab Investigators
- KConFab Investigators
- Keeman Renske
- Khusnutdinova Elza
- Kiiski Johanna I
- Ko Yon-Dschun
- Kosma Veli-Matti
- Kraft Peter
- Kurian Allison W
- Laitman Yael
- Lambrechts Diether
- Le Marchand Loic
- Leslie Goska
- Lester Jenny
- Lesueur Fabienne
- Lindstrom Tricia
- Lopez-FernĂĄndez Adria
- Loud Jennifer T
- Luccarini Craig
- Lush Michael
- Mannermaa Arto
- Manoukian Siranoush
- Margolin Sara
- Martens John WM
- McGuffog Lesley
- Mebirouk Noura
- Meindl Alfons
- Miller Austin
- Milne Roger L
- Montagna Marco
- Nathanson Katherine L
- Neuhausen Susan L
- Nevanlinna Heli
- Nielsen Finn C
- O'Brien Katie M
- O'Mara Tracy A
- Offit Kenneth
- Olopade Olufunmilayo I
- Olson Janet E
- Olsson HĂ„kan
- Osorio Ana
- Ottini Laura
- Park Sue K
- Park-Simon Tjoung-Won
- Parsons Michael T
- Pedersen Inge Sokilde
- Peshkin Beth
- Peterlongo Paolo
- Peto Julian
- Pharoah Paul DP
- Phillips Kelly-Anne
- Polley Eric C
- Poppe Bruce
- Presneau Nadege
- Pujana Miquel Angel
- Punie Kevin
- Radice Paolo
- Rantala Johanna
- Rashid Muhammad U
- Rennert Gad
- Rennert Hedy S
- Robson Mark
- Romero Atocha
- Rossing Maria
- Saloustros Emmanouil
- Sandler Dale P
- Santella Regina
- Scheuner Maren T
- Schmidt Gunnar
- Schmidt Marjanka K
- Schmutzler Rita K
- Scott Christopher
- Sharma Priyanka
- Simard Jacques
- Soucy Penny
- Southey Melissa C
- Spinelli John J
- Steinsnyder Zoe
- Stone Jennifer
- Stoppa-Lyonnet Dominique
- Swerdlow Anthony
- Tamimi Rulla M
- Tapper William J
- Taylor Jack A
- Terry Mary Beth
- Teulé Alex
- Thomassen Mads
- Thull Darcy L
- Tischkowitz Marc
- Toland Amanda E
- Torres Diana
- Trainer Alison H
- Truong ThérÚse
- Tung Nadine
- Tyrer Jonathan P
- Vachon Celine M
- Vega Ana
- Vijai Joseph
- Wang Qin
- Wappenschmidt Barbara
- Weinberg Clarice R
- Weitzel Jeffrey N
- Wendt Camilla
- Wolk Alicja
- Yadav Siddhartha
- Yang Xiaohong R
- Yannoukakos Drakoulis
- Zheng Wei
- Ziogas Argyrios
- Zorn Kristin K
- Publication venue
- Nat Commun
- Publication date
- 14/05/2021
- Field of study
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4
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)
- AittomÀki 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)
- BiaĆkowska 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 Ă . (Ă ke)
- 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. (HĂ©lĂšne)
- 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)
- GarcĂa-Closas M. (Montserrat)
- GarcĂa-SĂĄenz J.A. (JosĂ© 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)
- GonzĂĄlez-Neira A. (Anna)
- Graham D. (Dinny)
- Greene M.H. (Mark H.)
- Gregory H. (Helen)
- Guillaud-Bataille M. (Marine)
- Guimbaud R. (Rosine)
- Guénel P. (Pascal)
- GĂłmez 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.)
- HĂ„kansson 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)
- Kurian A.W. (Allison W.)
- Laitman Y. (Yael)
- Lallaoui H. (Hakima)
- Lalloo F. (Fiona)
- Lambrechts D. (Diether)
- Lange J.L. (J.) de
- Lasset C. (Christine)
- Le Marchand L. (Loic)
- Le Mentec M. (Marine)
- Lebrun M. (Marine)
- Leeuwen F.E. (Flora) van
- Leroux D. (Dominique)
- Leslie G. (Goska)
- Lester J. (Jenny)
- Lesueur F. (Fabienne)
- Lindeman G.J. (Geoffrey)
- Lindstrom T. (Tricia)
- Lizard S. (Sarab)
- Longy M. (Michel)
- Lopez-FernĂĄndez A. (Adria)
- Loud J.T. (Jennifer T.)
- Luccarini C. (Craig)
- Lush M. (Michael)
- LĂ©one M. (MĂ©lanie)
- Mannermaa A. (Arto)
- Manoukian S. (Siranoush)
- Margolin S. (Sara)
- Mari V. (VĂ©ronique)
- Marsh D. (Deborah)
- Martens J.W.M. (John)
- Mazoyer S. (Sylvie)
- McCann E. (Emma)
- McGuffog L. (Lesley)
- Mebirouk N. (Noura)
- Meijers-Heijboer E.J. (Hanne)
- Meindl A. (Alfons)
- Mensenkamp A.R. (Arjen R.)
- Miedzybrodzka Z. (Zosia)
- Miller A. (Austin)
- Milne R.L. (Roger L.)
- Milne R.L. (Roger)
- Molina-Gomes D. (Denise)
- Moncoutier V. (Virginie)
- Montagna M. (Marco)
- Morrison P.J. (Patrick J.)
- Mortemousque I. (Isabelle)
- Mourits M.J. (Marjan)
- Muller D.W. (DaniĂšle)
- Murray A. (Alexandra)
- Nathanson K.L. (Katherine)
- Nevanlinna H. (Heli)
- Nielsen F.C. (Finn C.)
- Noguchi T. (Tetsuro)
- Noguchi T. (Tetsuro)
- Nogues C. (Catherine)
- Obdeijn A.I.M. (Inge-Marie)
- Offit K. (Kenneth)
- Olopade O.I. (Olofunmilayo)
- Olson J.E. (Janet)
- Olsson H. (HĂ„kan)
- Ong K.-R. (Kai-ren)
- Oosterwijk J.C. (Jan)
- Osorio A. (Ana)
- Ottini L. (Laura)
- Ouweland A.M.W. (Ans) van den
- Overbeek L.I.H. (Lucy)
- OâBrien K.M. (Katie M.)
- OâMara T.A. (Tracy A.)
- Park S.K. (Sue K.)
- Park-Simon T.-W. (Tjoung-Won)
- Parsons M. (Marilyn)
- Pathmanathan N. (Nirmala)
- Pedersen I.S. (Inge Sokilde)
- Peshkin B. (Beth)
- Peterlongo P. (Paolo)
- Peto J. (Julian)
- Peysselon M. (Magalie)
- Pharoah P.D.P. (Paul)
- Phillips K.-A. (Kelly-Anne)
- Pol C. (Carmen) van der
- Polley E.C. (Eric C.)
- Popovici C. (Cornel)
- Poppe B. (Bruce)
- Porteous M.E. (Mary)
- Presneau N. (Nadege)
- Price M. (Melanie)
- Prieur F. (Fabienne)
- Pujana M.A. (Miquel Angel)
- Pujol P. (Pascal)
- Punie K. (Kevin)
- Radice P. (Paolo)
- Radice P. (Paolo)
- Rantala J. (Johanna)
- Rashid M.U. (Muhammad)
- Rebischung C. (Christine)
- Remenieras A. (Audrey)
- Rennert G. (Gad)
- Rennert H.S. (Hedy S.)
- Robson M. (Mark)
- Rogers M.T. (Mark)
- Romero A. (Atocha)
- Rookus M.A. (Matti)
- Rossing M. (Maria)
- Russell N.S. (Nicola)
- Révillion F. (Françoise)
- Sachchithananthan M. (Mythily)
- Saloustros E. (Emmanouil)
- Sandler D.P. (Dale P.)
- Santella R.M. (Regina)
- Santos Silva I. (Isabel) dos
- Saule C. (Claire)
- Scheuner M.T. (Maren T.)
- Schmidt G. (Gunnar)
- Schmidt M.K. (Marjanka K.)
- Schmutzler R.K. (Rita)
- Scott C. (Christopher)
- Scott R.J. (Rodney)
- Sevenet N. (Nicolas)
- Seynaeve C.M. (Caroline)
- Sharma P. (Priyanka)
- Side L.E. (Lucy E.)
- Siesling S. (Sabine)
- Simard J. (Jacques)
- Simpson P. (Peter)
- Sinilnikova O. (Olga)
- Snape K. (Katie)
- Sobol H. (Hagay)
- Sokolowska J. (Johanna)
- Soubrier F. (Florent)
- Soucy P. (Penny)
- Southey M.C. (Melissa C.)
- Southey M.C. (Melissa)
- Spinelli J.J. (John J.)
- Spurdle A. (Amanda)
- Steinsnyder Z. (Zoe)
- Stone J. (Jennifer)
- Stoppa-Lyonnet D. (Dominique)
- Swerdlow A.J. (Anthony )
- Tamimi R. (Rulla)
- Tapper W.J. (William J.)
- Tassell M. (Margaret)
- Taylor J.A. (Jack A.)
- Terry M.B. (Mary Beth)
- Teulé A. (Alex)
- Thomassen M. (Mads)
- Thull D.L. (Darcy L.)
- Tischkowitz M. (Marc)
- Toland A.E. (Amanda)
- Torres D. (Diana)
- Toulas C. (Christine)
- Trainer A.H. (Alison H.)
- Truong T. (ThérÚse)
- Tung N. (Nadine)
- Tyrer J.P. (Jonathan P.)
- Uhrhammer N. (Nancy)
- Vachon C. (Celine)
- van Asperen C.J. (Christi J.)
- van der Luijt R.B. (Rob B.)
- Vaur D. (Dominique)
- Vega A. (Ana)
- Verny-Pierre C. (Carole)
- VĂ©nat-Bouvet L. (Laurence)
- Walker L. (Lisa)
- Wang Q. (Qin)
- Wappenschmidt B. (Barbara)
- Warcoin M. (Mathilde)
- Webb P. (Penny)
- Weinberg C.R. (Clarice R.)
- Weitzel J.N. (Jeffrey)
- Wendt C. (Camilla)
- Wijnands R. (R.)
- Wijnen J.T. (Juul)
- Wolk K. (Kerstin)
- Yadav S. (Siddhartha)
- Yang X.R. (Xiaohong R.)
- Yannoukakos D. (Drakoulis)
- Yip D. (Desmond)
- Zheng W. (Wei)
- Ziogas A. (Argyrios)
- Zorn K.K. (Kristin K.)
- 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 < 10â8, 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
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
- Author
- Aalfs Cora M.
- Adank Muriel A.
- Adank Muriel A.
- Adenis Claude
- Adlard Julian
- Agata Simona
- Ahearn Thomas
- AittomÀki Kristiina
- Andrieu Nadine
- Andrulis Irene L.
- Anton-Culver Hoda
- Antoniou Antonis C.
- Arndt Volker
- Arnold Norbert
- Aronson Kristan J.
- Arun Banu K.
- Augustinsson Annelie
- Ausems Margreet G. E. M.
- Azzollini Jacopo
- Barjhoux Laure
- Barnes Daniel R.
- Barouk-Simonet Emmanuelle
- Barrowdale Daniel
- Barwell Julian
- Baurand Amandine
- Baxter Robert
- Baynes Caroline
- Becher Heko
- Beesley Jonathan
- Belotti Muriel
- Bermisheva Marina
- Bernstein Leslie
- Berthet Pascaline
- Bertolone Geoffrey
- Bertrand Ophélie
- BiaĆkowska Katarzyna
- Bignon Yves- Jean
- Birot Anne-Marie
- Blok Marinus J.
- Blomqvist Carl
- Bojesen Stig E.
- Bolla Manjeet K.
- Bonadona Valérie
- Bonanni Bernardo
- Bonnet Françoise
- Borg Ake
- Bourdon Violaine
- Boutry-Kryza Nadia
- Bowtell David
- Brady Angela
- Brauch Hiltrud
- Brenner Hermann
- Bressac-de-Paillerets Brigitte
- Brewer Carole
- Bronner Myriam
- Bubien Virginie
- Buecher Bruno
- Burwinkel Barbara
- Buys Saundra S.
- Bézieau Stéphane
- Caldés Trinidad
- Calender Alain
- Caligo Maria A.
- Campa Daniele
- Campbell Ian
- Caputo Sandrine
- Caron Olivier
- Carpenter Jane
- Carter Brian D.
- Castelao Jose E.
- Castera Laurent
- Chang-Claude Jenny
- Chanock Stephen J.
- Chenevix-Trench Georgia
- Chiesa Jean
- Chung Wendy K.
- Claes Kathleen B. M.
- Clarke Christine
- Clarke Christine L.
- Coignard Juliette
- Colas Chrystelle
- Collonge-Rame Marie-AgnĂšs
- Collée J. Margriet
- Collée J. Margriet
- Conroy Don M.
- Cook Jackie
- Coron Fanny
- Couch Fergus J.
- Coulet Florence
- Coupier Isabelle
- Czene Kamila
- Daly Mary B.
- Damette Alexandre
- Damiola Francesca
- Davidson Rosemarie
- Davis Alison
- de Bock G. H.
- de Fazio Anna
- de Lange Judith L.
- de Pauw Antoine
- Deb Sid
- Delnatte Capucine
- Dennis Joe
- Devilee Peter
- Diez Orland
- Ding Yuan Chun
- Domchek Susan M.
- Donaldson Alan
- dos-Santos-Silva Isabel
- Dreyfus H. lĂšne
- Dumont Aurélie
- Dunning Alison M.
- Dupré Anaïs
- Dwek Miriam
- Dörk Thilo
- Eason Jacqueline
- Easton Douglas F.
- Eccles Diana
- Eccles Diana M.
- Eeles Rosalind A.
- Eliassen A. Heather
- Engel Christoph
- Eriksson Mikael
- Evans D. Gareth
- Faivre Laurence
- Fasching Peter A.
- Feillel Viviane
- Ferrer Sandra Fert
- Flyger Henrik
- Foo Claire
- Fostira Florentia
- Fourme Emmanuelle
- Fox Stephen
- Friedman Eitan
- Fritschi Lin
- Frost Debra
- Gago-Dominguez Manuela
- Gapstur Susan M.
- Garber Judy
- Garcia-Barberan Vanesa
- GarcĂa-Closas Montserrat
- GarcĂa-SĂĄenz JosĂ© A.
- Gaudet Mia M.
- Gauthier-Villars Marion
- Gayther Simon A.
- Gehrig Andrea
- Georgoulias Vassilios
- Gesta Paul
- Giles Graham G.
- Gille J. J. P.
- Giraud Sophie
- Gladieff Laurence
- Godwin Andrew K.
- Goldberg Mark S.
- Goldgar David E.
- Golmard Lisa
- GonzĂĄlez-Neira Anna
- Graham Dinny
- Greene Mark H.
- Gregory Helen
- Guillaud-Bataille Marine
- Guimbaud Rosine
- Guénel Pascal
- GĂłmez Garcia Encarna B.
- Haeberle Lothar
- Hahnen Eric
- Haiman Christopher A.
- Hall Per
- Hamann Ute
- Harrington Patricia A.
- Hart Steven N.
- He Wei
- Henderson Alex
- Hogervorst Frans B. L.
- Hollestelle Antoinette
- Hooning Maartje J.
- Hopper John L.
- Horcasitas Darling J.
- Houdayer Claude
- Hulick Peter J.
- Hunter David J.
- HĂ„kansson Niclas
- Imyanitov Evgeny N.
- Ingster Olivier
- Izatt Louise
- Jacquot Caroline
- Jager Agnes
- Jakubowska Anna
- James Paul A.
- Jensen Uffe Birk
- John Esther M.
- Jones Michael E.
- Kaaks Rudolf
- Kapoor Pooja Middha
- Karlan Beth Y.
- Keeman Renske
- Kennedy M. John
- Kets Carolien M.
- Khusnutdinova Elza
- Kientz Caroline
- Kiiski Johanna I.
- Kirk Judy
- Ko Yon-Dschun
- Kosma Veli-Matti
- Kraft Peter
- Kurian Allison W.
- Laitman Yael
- Lallaoui Hakima
- Lalloo Fiona
- Lambrechts Diether
- Lasset Christine
- le Marchand Loic
- le Mentec Marine
- Lebrun Marine
- Leroux Dominique
- Leslie Goska
- Lester Jenny
- Lesueur Fabienne
- Lindeman Geoff
- Lindstrom Tricia
- Lizard Sarab
- Longy Michel
- Lopez-FernĂĄndez Adria
- Loud Jennifer T.
- Luccarini Craig
- Lush Michael
- LĂ©one M. lanie
- Mannermaa Arto
- Manoukian Siranoush
- Margolin Sara
- Mari V. ronique
- Marsh Deborah
- Martens John W. M.
- Mazoyer Sylvie
- McCann Emma
- McGuffog Lesley
- Mebirouk Noura
- Meijers-Heijboer Hanne E. J.
- Meindl Alfons
- Mensenkamp Arjen R.
- Miedzybrodzka Zosia
- Miller Austin
- Milne Roger
- Milne Roger L.
- Molina-Gomes Denise
- Moncoutier Virginie
- Montagna Marco
- Morrison Patrick J.
- Mortemousque Isabelle
- Mourits Marian J. E.
- Muller DaniĂšle
- Murray Alex
- Nathanson Katherine L.
- Neuhausen Susan L.
- Nevanlinna Heli
- Nielsen Finn C.
- Noguchi Tetsuro
- Noguchi Tetsuro
- NoguĂšs Catherine
- Obdeijn Inge M.
- Offit Kenneth
- Olopade Olufunmilayo I.
- Olson Janet E.
- Olsson H. kan
- Ong Kai-ren
- Oosterwijk Jan C.
- Osorio Ana
- Ottini Laura
- Overbeek Lucy
- OâBrien Katie M.
- OâMara Tracy A.
- Park Sue K.
- Park-Simon Tjoung-Won
- Parsons Michael T.
- Pathmanathan Nirmala
- Pedersen Inge Sokilde
- Peshkin Beth
- Peterlongo Paolo
- Peto Julian
- Peysselon Magalie
- Pharoah Paul D. P.
- Phillips Kelly-Anne
- Polley Eric C.
- Popovici Cornel
- Poppe Bruce
- Porteous Mary E.
- Presneau Nadege
- Price Melanie
- Prieur Fabienne
- Pujana Miquel Angel
- Pujol Pascal
- Punie Kevin
- Radice Paolo
- Rantala Johanna
- Rashid Muhammad U.
- Rebischung Christine
- Remenieras Audrey
- Rennert Gad
- Rennert Hedy S.
- Robson Mark
- Rogers Mark T.
- Romero Atocha
- Rookus Matti A.
- Rossing Maria
- Russell Nicola S.
- Révillion Françoise
- Sachchithananthan Mythily
- Saloustros Emmanouil
- Sandler Dale P.
- Santella Regina
- Saule Claire
- Scheuner Maren T.
- Schmidt Gunnar
- Schmidt Marjanka K.
- Schmutzler Rita K.
- Scott Christopher
- Scott Rodney
- Sevenet Nicolas
- Seynaeve Caroline
- Sharma Priyanka
- Side Lucy E.
- Siesling Sabine
- Simard Jacques
- Simpson Peter
- Sinilnikova Olga
- Snape Katie
- Sobol Hagay
- Sokolowska Johanna
- Soubrier Florent
- Soucy Penny
- Southey Melissa
- Southey Melissa C.
- Spinelli John J.
- Spurdle Amanda
- Steinsnyder Zoe
- Stone Jennifer
- Stoppa-Lyonnet Dominique
- Swerdlow Anthony
- Tamimi Rulla M.
- Tapper William J.
- Tassell Margaret
- Taylor Jack A.
- Terry Mary Beth
- Teulé Alex
- Thomassen Mads
- Thull Darcy L.
- Tischkowitz Marc
- Toland Amanda E.
- Torres Diana
- Toulas Christine
- Trainer Alison H.
- Truong ThérÚse
- Tung Nadine
- Tyrer Jonathan P.
- Uhrhammer Nancy
- Vachon Celine M.
- van Asperen Christi J.
- van Cronenburg T. C. T. E. F.
- van den Ouweland Ans M. W.
- van der Hout Annemieke H.
- van der Kolk Lizet E.
- van der Luijt Rob B.
- van der Pol Carmen C.
- van Deurzen Carolien H. M.
- van Leeuwen Flora E.
- Vaur Dominique
- Vega Ana
- Verny-Pierre Carole
- Vijai Joseph
- VĂ©nat-Bouvet Laurence
- Walker Lisa
- Wang Qin
- Wappenschmidt Barbara
- Warcoin Mathilde
- Webb Penny
- Weinberg Clarice R.
- Weitzel Jeffrey N.
- Wendt Camilla
- Wijnands R.
- Wijnen Juul T.
- Wolk Alicja
- Yadav Siddhartha
- Yang Xiaohong R.
- Yannoukakos Drakoulis
- Yip Desmond
- Zheng Wei
- Ziogas Argyrios
- Zorn Kristin K.
- Publication venue
- Nature Communications
- Publication date
- 01/02/2021
- Field of study
Abstract: 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 < 10â8, 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
Recommended from our members
Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
- Author
- ABCTB Investigators
- Adank Muriel A
- Agata Simona
- Ahearn Thomas
- AittomÀki Kristiina
- Andrieu Nadine
- Andrulis Irene L
- Anton-Culver Hoda
- Antoniou Antonis
- Arndt Volker
- Arnold Norbert
- Aronson Kristan J
- Arun Banu K
- Augustinsson Annelie
- Azzollini Jacopo
- Barnes Daniel
- Barrowdale Daniel
- Baynes Caroline
- Becher Heko
- Beesley Jonathan
- Bermisheva Marina
- Bernstein Leslie
- BiaĆkowska Katarzyna
- Blomqvist Carl
- Bojesen Stig E
- Bolla Manjeet K
- Bonanni Bernardo
- Borg Ake
- Brauch Hiltrud
- Brenner Hermann
- Burwinkel Barbara
- Buys Saundra S
- Caldés Trinidad
- Caligo Maria A
- Campa Daniele
- Carter Brian D
- Castelao Jose E
- Chang-Claude Jenny
- Chanock Stephen J
- Chenevix-Trench Georgia
- Chung Wendy K
- Claes Kathleen BM
- Clarke Christine L
- Coignard Juliette
- Collée J Margriet
- Conroy Don M
- Couch Fergus J
- Czene Kamila
- Daly Mary B
- Dennis Joe
- Devilee Peter
- Diez Orland
- Ding Yuan Chun
- Domchek Susan M
- Dos-Santos-Silva Isabel
- Dunning Alison
- Dwek Miriam
- Dörk Thilo
- Easton Douglas F
- Eccles Diana M
- Eliassen A Heather
- EMBRACE Collaborators
- Engel Christoph
- Eriksson Mikael
- Evans D Gareth
- Fasching Peter A
- Flyger Henrik
- Fostira Florentia
- Friedman Eitan
- Fritschi Lin
- Frost Debra
- Gago-Dominguez Manuela
- Gapstur Susan M
- Garber Judy
- Garcia-Barberan Vanesa
- GarcĂa-Closas Montserrat
- GarcĂa-SĂĄenz JosĂ© A
- Gaudet Mia M
- Gayther Simon A
- Gehrig Andrea
- GEMO Study Collaborators
- Georgoulias Vassilios
- Giles Graham G
- Godwin Andrew K
- Goldberg Mark S
- Goldgar David E
- GonzĂĄlez-Neira Anna
- Greene Mark H
- Guénel Pascal
- Haeberle Lothar
- Hahnen Eric
- Haiman Christopher A
- Hall Per
- Hamann Ute
- Harrington Patricia A
- Hart Steven N
- He Wei
- HEBON Investigators
- Hogervorst Frans BL
- Hollestelle Antoinette
- Hopper John L
- Horcasitas Darling J
- Hulick Peter J
- Hunter David J
- HĂ„kansson Niclas
- Imyanitov Evgeny N
- Jager Agnes
- Jakubowska Anna
- James Paul A
- Jensen Uffe Birk
- John Esther M
- Jones Michael E
- Kaaks Rudolf
- Kapoor Pooja Middha
- Karlan Beth Y
- KConFab Investigators
- Keeman Renske
- Khusnutdinova Elza
- Kiiski Johanna I
- Ko Yon-Dschun
- Kosma Veli-Matti
- Kraft Peter
- Kurian Allison W
- Laitman Yael
- Lambrechts Diether
- Le Marchand Loic
- Leslie Goska
- Lester Jenny
- Lesueur Fabienne
- Lindstrom Tricia
- Lopez-FernĂĄndez Adria
- Loud Jennifer T
- Luccarini Craig
- Lush Michael
- Mannermaa Arto
- Manoukian Siranoush
- Margolin Sara
- Martens John WM
- McGuffog Lesley
- Mebirouk Noura
- Meindl Alfons
- Miller Austin
- Milne Roger L
- Montagna Marco
- Nathanson Katherine L
- Neuhausen Susan L
- Nevanlinna Heli
- Nielsen Finn C
- O'Brien Katie M
- O'Mara Tracy A
- Offit Kenneth
- Olopade Olufunmilayo I
- Olson Janet E
- Olsson HĂ„kan
- Osorio Ana
- Ottini Laura
- Park Sue K
- Park-Simon Tjoung-Won
- Parsons Michael T
- Pedersen Inge Sokilde
- Peshkin Beth
- Peterlongo Paolo
- Peto Julian
- Pharoah Paul
- Phillips Kelly-Anne
- Polley Eric C
- Poppe Bruce
- Presneau Nadege
- Pujana Miquel Angel
- Punie Kevin
- Radice Paolo
- Rantala Johanna
- Rashid Muhammad U
- Rennert Gad
- Rennert Hedy S
- Robson Mark
- Romero Atocha
- Rossing Maria
- Saloustros Emmanouil
- Sandler Dale P
- Santella Regina
- Scheuner Maren T
- Schmidt Gunnar
- Schmidt Marjanka K
- Schmutzler Rita K
- Scott Christopher
- Sharma Priyanka
- Simard Jacques
- Soucy Penny
- Southey Melissa C
- Spinelli John J
- Steinsnyder Zoe
- Stone Jennifer
- Stoppa-Lyonnet Dominique
- Swerdlow Anthony
- Tamimi Rulla M
- Tapper William J
- Taylor Jack A
- Terry Mary Beth
- Teulé Alex
- Thomassen Mads
- Thull Darcy L
- Tischkowitz Marc
- Toland Amanda E
- Torres Diana
- Trainer Alison H
- Truong ThérÚse
- Tung Nadine
- Tyrer Jonathan
- Vachon Celine M
- Vega Ana
- Vijai Joseph
- Wang Qin
- Wappenschmidt Barbara
- Weinberg Clarice R
- Weitzel Jeffrey N
- Wendt Camilla
- Wolk Alicja
- Yadav Siddhartha
- Yang Xiaohong R
- Yannoukakos Drakoulis
- Zheng Wei
- Ziogas Argyrios
- Zorn Kristin K
- Publication venue
- Nat Commun
- Publication date
- 20/05/2021
- Field of study
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4