A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
2021
- J Coignard
- Michael Lush
- Jonathan Beesley
- Tracy A. OMara
- Joe Dennis
- Jonathan Tyrer
- Barnes
- Lesley McGuffog
- Goska Leslie
- Manjeet K. Bolla
- Simona Agata
- Thomas Ahearn
- Kristiina Aittomäki
- Irene L. Andrulis
- Hoda Anton-Culver
- Arndt
- Norbert Arnold
- Kristan J. Aronson
- Banu Arun
- Annelie Augustinsson
- Jacopo Azzollini
- Daniel Barrowdale
- Caroline Baynes
- Heiko Becher
- Marina Bermisheva
- Leslie Bernstein
- Katarzyna Białkowska
- Carl Blomqvist
- Stig E. Bojesen
- Bernardo Bonanni
- Åke Borg
- Hiltrud Brauch
- H. Brenner
- Barbara Burwinkel
- Saundra S. Buys
- Trinidad Caldés
- Maria A. Caligo
- Daniele Campa
- Brian D. Carter
- Jose Esteban Castelao
- Jenny Chang-Claude
- Stephen J. Chanock
- Wendy K. Chung
- Kbm Claes
- CL Clarke
- O Bertrand
- S Caputo
- A Dupre
- Le, Mentec, M
- M Belotti
- A-M Birot
- Bruno Buecher
- E Fourme
- M Gauthier-Villars
- L Golmard
- C Houdayer
- Moncoutier
- de, Pauw, A
- C Saule
- O Sinilnikova
- S Mazoyer
- F Damiola
- L Barjhoux
- C Verny-Pierre
- M Leone
- N Boutry-Kryza
- A Calender
- Sophie Giraud
- O Caron
- M Guillaud-Bataille
- Brigitte Bressac-de Paillerets
- Y.J. Bignon
- N Uhrhammer
- C Lasset
- Bonadona
- P Berthet
- D Vaur
- L Castera
- T Noguchi
- C Popovici
- H Sobol
- Bourdon
- A Remenieras
- C Nogues
- I Coupier
- P Pujol
- A Dumont
- Françoise Révillion
- Claude Adenis
- D. Müller
- E Barouk-Simonet
- F Bonnet
- Bubien
- N Sevenet
- M Longy
- C Toulas
- R Guimbaud
- L Gladieff
- Feillel
- D Leroux
- H Dreyfus
- C Rebischung
- M Peysselon
- F Coron
- L Faivre
- A Baurand
- C Jacquot
- G Bertolone
- S Lizard
- F Prieur
- Marine Lebrun
- Caroline Kientz
- Sandra Fert Ferrer
- Mari
- L Venat-Bouvet
- C Delnatte
- S Bezieau
- Isabelle Mortemousque
- Florence Coulet
- C Colas
- Florent Soubrier
- M Warcoin
- Johanna Sokolowska
- M Bronner
- M.-A. Collonge Rame
- A Damette
- Paul Gesta
- H Lallaoui
- J Chiesa
- D Molina-Gomes
- O. Ingster
- Helen Gregory
- Zosia Miedzybrodzka
- Patrick J. Morrison
- K-R Ong
- A Donaldson
- MT Rogers
- MJ Kennedy
- ME Porteous
- C Brewer
- R Davidson
- L Izatt
- A Brady
- Julian Barwell
- Julian Adlard
- C Foo
- F Lalloo
- LE Side
- J Eason
- Alex Henderson
- Lisa Walker
- Rosalind A. Eeles
- Joshua R. Cook
- K Snape
- DM Eccles
- Alex Murray
- E McCann
- JM Collee
- Don Conroy
- Kamila Czene
- Mary B. Daly
- Peter Devilee
- Orland Diez
- Yuan Chun Ding
- Susan M. Domchek
- Thilo Dörk
- Isabel dos-Santos-Silva
- Alison M. Dunning
- Miriam Dwek
- Diana Eccles
- AH Eliassen
- Christoph Engel
- Mikael Eriksson
- D.G.R. Evans
- Peter A. Fasching
- Henrik Flyger
- F. Fostira
- Eitan Friedman
- Lin Fritschi
- Debra Frost
- Manuela Gago-Dominguez
- Susan M. Gapstur
- Judy Garber
- Garcia-Barberan
- M. Garcia-Closas
- José A. García-Sáenz
- Mia M. Gaudet
- Simon A. Gayther
- Andrea Gehrig
- Georgoulias
- Graham G. Giles
- Andrew K. Godwin
- Goldberg
- David E. Goldgar
- Anna González-Neira
- Mark H. Greene
- Pascal Guénel
- Lothar Haeberle
- Eric Hahnen
- Christopher A. Haiman
- Niclas Håkansson
- Per Hall
- Ute Hamann
- Patricia Harrington
- Steven N. Hart
- Wei He
- F B L Hogervorst
- Antoinette Hollestelle
- John L. Hopper
- DJ Horcasitas
- Peter J. Hulick
- David J. Hunter
- Evgeny N. Imyanitov
- S Fox
- I Campbell
- Amanda B. Spurdle
- P Webb
- De Fazio A
- M Tassell
- J Kirk
- G Lindeman
- Michael Price
- Melissa C. Southey
- Roger L. Milne
- S. Deb
- David D.L. Bowtell
- van der Hout Ah
- van, den, Ouweland, Amw
- Arjen R. Mensenkamp
- van Deurzen Chm
- C. M. Kets
- Caroline Seynaeve
- van Asperen Cj
- Cora M. Aalfs
- Gómez-García Eb
- van Leeuwen Fe
- de Bock Gh
- Hej Meijers-Heijboer
- IM Obdeijn
- Jjp Gille
- Jan C. Oosterwijk
- Juul T. Wijnen
- van der Kolk Le
- Maartje J. Hooning
- Mgem Ausems
- Mje Mourits
- Marinus J. Blok
- Matti A. Rookus
- Muriel A. Adank
- van der Luijt Rb
- van, Cronenburg, Tctef
- van der Pol Cc
- NS Russell
- Sabine Siesling
- L. Overbeek
- R. Wijnands
- de, Lange, Jl
- Christine L. Clarke
- D Graham
- Mythily Sachchithananthan
- D Marsh
- R.J. Scott
- R. Baxter
- D Yip
- Jane Carpenter
- A. Davis
- N Pathmanathan
- P. Simpson
- Agnes Jager
- Anna Jakubowska
- Paul A. James
- Uffe Birk Jensen
- Esther M. John
- ME Jones
- R. Kaaks
- Pooja Middha Kapoor
- BY Karlan
- R Keeman
- Elza Khusnutdinova
- Johanna I. Kiiski
- Y-D Ko
- V-M Kosma
- Peter Kraft
- Allison W. Kurian
- Yael Laitman
- Diether Lambrechts
- Le Marchand L
- Jenny Lester
- Fabienne Lesueur
- T Lindstrom
- Adrià López-Fernández
- Jennifer T. Loud
- Craig Luccarini
- Arto Mannermaa
- Siranoush Manoukian
- Sara Margolin
- Jwm Martens
- Noura Mebirouk
- Alfons Meindl
- Austin Miller
- RL Milne
- M. Montagna
- Katherine L. Nathanson
- Susan L. Neuhausen
- H. Nevanlinna
- Finn Cilius Nielsen
- KM OBrien
- Olufunmilayo I. Olopade
- Janet E. Olson
- Håkan Olsson
- Ana Osorio
- Laura Ottini
- T-W Park-Simon
- Michael T. Parsons
- Inge Søkilde Pedersen
- Beth N. Peshkin
- Paolo Peterlongo
- Julian Peto
- P. Pharoah
- K-A Phillips
- Eric C. Polley
- Bruce Poppe
- Nadège Presneau
- M.A. Pujana
- Kevin Punie
- Paolo Radice
- Johanna Rantala
- Muhammad U. Rashid
- Gadi Rennert
- Hedy S. Rennert
- Mark E. Robson
- Atocha Romero
- Maria Rossing
- Emmanouil Saloustros
- Dale P. Sandler
- Regina M. Santella
- Maren T. Scheuner
- MK Schmidt
- G Schmidt
- Christopher G. Scott
- Priyanka Sharma
- Penny Soucy
- Mc Southey
- John J. Spinelli
- Z Steinsnyder
- Jennifer Stone
- Dominique Stoppa-Lyonnet
- A Swerdlow
- Rulla M. Tamimi
- William J. Tapper
- Jack A. Taylor
- Mary Beth Terry
- Alex Teulé
- Darcy L. Thull
- Marc Tischkowitz
- Amanda E. Toland
- Diana Torres
- Alison H. Trainer
- Theŕeśe Truong
- Nadine Tung
- Celine M. Vachon
- Ana Vega
- Joseph Vijai
- Qin Wang
- Barbara Wappenschmidt
- Clarice R. Weinberg
- Jeffrey N. Weitzel
- Camilla Wendt
- Alicja Wolk
- Siddhartha Yadav
- Xiaohong R. Yang
- Drakoulis Yannoukakos
- Wei Zheng
- Argyrios Ziogas
- Kristin K. Zorn
- Sue K. Park
- Mads Thomassen
- Kenneth Offit
- Rita K. Schmutzler
- Fergus J. Couch
- Jacques Simard
- Georgia Chenevix-Trench
- Doug Easton
- N. Andrieu
- Antonis C. Antoniou
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.