A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard; Michael Lush; Jonathan Beesley; Tracy A O’Mara; Joe Dennis; Jonathan P Tyrer; Daniel R Barnes; Lesley McGuffog; Goska Leslie; Manjeet K Bolla; Muriel A Adank; Simona Agata; Thomas Ahearn; Kristiina Aittomäki; Irene L Andrulis; Hoda Anton-Culver; Volker Arndt; Norbert Arnold; Kristan J Aronson; Banu K Arun; Annelie Augustinsson; Jacopo Azzollini; Daniel Barrowdale; Caroline Baynes; Heiko Becher; Marina Bermisheva; Leslie Bernstein; Katarzyna Białkowska; Carl Blomqvist; Stig E Bojesen; Bernardo Bonanni; Ake Borg; Hiltrud Brauch; Hermann Brenner; Barbara Burwinkel; Saundra S Buys; Trinidad Caldés; Maria A Caligo; Daniele Campa; Brian D Carter; Jose E Castelao; Jenny Chang-Claude; Stephen J Chanock; Wendy K Chung; Kathleen B. M Claes; Christine L Clarke; Don M 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 M Eccles; A. Heather Eliassen; Christoph Engel; Mikael Eriksson; D. Gareth Evans; Peter A Fasching; Henrik Flyger; Florentia Fostira; Eitan Friedman; Lin Fritschi; Debra Frost; Manuela Gago-Dominguez; Susan M Gapstur; Judy Garber; Vanesa Garcia-Barberan; Montserrat García-Closas; José A García-Sáenz; Mia M Gaudet; Simon A Gayther; Andrea Gehrig; Vassilios Georgoulias; Graham G Giles; Andrew K Godwin; Mark S 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 A Harrington; Steven N Hart; Wei He; Frans B. L Hogervorst; Antoinette Hollestelle; John L Hopper; Darling J Horcasitas; Peter J Hulick; David J Hunter; Evgeny N Imyanitov; Agnes Jager; Anna Jakubowska; Paul A James; Uffe Birk Jensen; Esther M John; Michael E Jones; Rudolf Kaaks; Pooja Middha Kapoor; Beth Y Karlan; Renske Keeman; Elza Khusnutdinova; Johanna I Kiiski; Yon-Dschun Ko; Veli-Matti Kosma; Peter Kraft; Allison W Kurian; Yael Laitman; Diether Lambrechts; Loic Le Marchand; Jenny Lester; Fabienne Lesueur; Tricia Lindstrom; Adria Lopez-Fernández; Jennifer T Loud; Craig Luccarini; Arto Mannermaa; Siranoush Manoukian; Sara Margolin; John W. M Martens; Noura Mebirouk; Alfons Meindl; Austin Miller; Roger L Milne; Marco Montagna; Katherine L Nathanson; Susan L Neuhausen; Heli Nevanlinna; Finn C Nielsen; Katie M O’Brien; Olufunmilayo I Olopade; Janet E Olson; Håkan Olsson; Ana Osorio; Laura Ottini; Tjoung-Won Park-Simon; Michael T Parsons; Inge Sokilde Pedersen; Beth Peshkin; Paolo Peterlongo; Julian Peto; Paul D. P Pharoah; Kelly-Anne Phillips; Eric C Polley; Bruce Poppe; Nadege Presneau; Miquel Angel Pujana; Kevin Punie; Paolo Radice; Johanna Rantala; Muhammad U Rashid; Gad Rennert; Hedy S Rennert; Mark Robson; Atocha Romero; Maria Rossing; Emmanouil Saloustros; Dale P Sandler; Regina Santella; Maren T Scheuner; Marjanka K Schmidt; Gunnar Schmidt; Christopher Scott; Priyanka Sharma; Penny Soucy; Melissa C Southey; John J Spinelli; Zoe Steinsnyder; Jennifer Stone; Dominique Stoppa-Lyonnet; Anthony 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; Thérèse 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; Douglas F Easton; Nadine Andrieu; Antonis C Antoniou; Ophélie Bertrand; Sandrine Caputo; Anaïs Dupré; Marine Le Mentec; Muriel Belotti; Anne-Marie Birot; Bruno Buecher; Emmanuelle Fourme; Marion Gauthier-Villars; Lisa Golmard; Claude Houdayer; Virginie Moncoutier; Antoine de Pauw; Claire Saule; Olga Sinilnikova; Sylvie Mazoyer; Francesca Damiola; Laure Barjhoux; Carole Verny-Pierre; Mélanie Léone; Nadia Boutry-Kryza; Alain Calender; Sophie Giraud; Olivier Caron; Marine Guillaud-Bataille; Brigitte Bressac-de-Paillerets; Yves- Jean Bignon; Nancy Uhrhammer; Christine Lasset; Valérie Bonadona; Pascaline Berthet; Dominique Vaur; Laurent Castera; Tetsuro Noguchi; Cornel Popovici; Hagay Sobol; Violaine Bourdon; Audrey Remenieras; Catherine Noguès; Isabelle Coupier; Pascal Pujol; Aurélie Dumont; Françoise Révillion; Claude Adenis; Danièle Muller; Emmanuelle Barouk-Simonet; Françoise Bonnet; Virginie Bubien; Nicolas Sevenet; Michel Longy; Christine Toulas; Rosine Guimbaud; Laurence Gladieff; Viviane Feillel; Dominique Leroux; Hélène Dreyfus; Christine Rebischung; Magalie Peysselon; Fanny Coron; Laurence Faivre; Amandine Baurand; Caroline Jacquot; Geoffrey Bertolone; Sarab Lizard; Fabienne Prieur; Marine Lebrun; Caroline Kientz; Sandra Fert Ferrer; Véronique Mari; Laurence Vénat-Bouvet; Capucine Delnatte; Stéphane Bézieau; Isabelle Mortemousque; Florence Coulet; Chrystelle Colas; Florent Soubrier; Mathilde Warcoin; Johanna Sokolowska; Myriam Bronner; Marie-Agnès Collonge-Rame; Alexandre Damette; Paul Gesta; Hakima Lallaoui; Jean Chiesa; Denise Molina-Gomes; Olivier Ingster; Helen Gregory; Zosia Miedzybrodzka; Patrick J Morrison; Kai-ren Ong; Alan Donaldson; Mark T Rogers; M. John Kennedy; Mary E Porteous; Carole Brewer; Rosemarie Davidson; Louise Izatt; Angela Brady; Julian Barwell; Julian Adlard; Claire Foo; Fiona Lalloo; Lucy E Side; Jacqueline Eason; Alex Henderson; Lisa Walker; Rosalind A Eeles; Jackie Cook; Katie Snape; Diana Eccles; Alex Murray; Emma McCann; Stephen Fox; Ian Campbell; Amanda Spurdle; Penny Webb; Anna de Fazio; Margaret Tassell; Judy Kirk; Geoff Lindeman; Melanie Price; Melissa Southey; Roger Milne; Sid Deb; David Bowtell; Annemieke H van der Hout; Ans M. W van den Ouweland; Arjen R Mensenkamp; Carolien H. M van Deurzen; Carolien M Kets; Caroline Seynaeve; Christi J van Asperen; Cora M Aalfs; Encarna B Gómez Garcia; Flora E van Leeuwen; G. H de Bock; Hanne E. J Meijers-Heijboer; Inge M Obdeijn; J. Margriet Collée; J. J. P Gille; Jan C Oosterwijk; Juul T Wijnen; Lizet E van der Kolk; Maartje J Hooning; Margreet G. E. M Ausems; Marian J. E Mourits; Marinus J Blok; Matti A Rookus; Rob B van der Luijt; T. C. T. E. F van Cronenburg; Carmen C van der Pol; Nicola S Russell; Sabine Siesling; Lucy Overbeek; R Wijnands; Judith L de Lange; Christine Clarke; Dinny Graham; Mythily Sachchithananthan; Deborah Marsh; Rodney Scott; Robert Baxter; Desmond Yip; Jane Carpenter; Alison Davis; Nirmala Pathmanathan; Peter Simpson

doi:10.17863/CAM.73635

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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Article de revue

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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A O’Mara, Joe Dennis, Jonathan P Tyrer, Daniel R Barnes, Lesley McGuffog, Goska Leslie, Manjeet K Bolla, …

17/02/2021

DOI: https://doi.org/10.17863/CAM.73635

Résumé

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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.

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Titre: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Créateurs - sans rôle: Juliette Coignard
Michael Lush
Jonathan Beesley
Tracy A O’Mara
Joe Dennis
Jonathan P Tyrer
Daniel R Barnes
Lesley McGuffog
Goska Leslie
Manjeet K Bolla
Muriel A Adank
Simona Agata
Thomas Ahearn
Kristiina Aittomäki
Irene L Andrulis
Hoda Anton-Culver
Volker Arndt
Norbert Arnold
Kristan J Aronson
Banu K Arun
Annelie Augustinsson
Jacopo Azzollini
Daniel Barrowdale
Caroline Baynes
Heiko Becher
Marina Bermisheva
Leslie Bernstein
Katarzyna Białkowska
Carl Blomqvist
Stig E Bojesen
Bernardo Bonanni
Ake Borg
Hiltrud Brauch
Hermann Brenner
Barbara Burwinkel
Saundra S Buys
Trinidad Caldés
Maria A Caligo
Daniele Campa
Brian D Carter
Jose E Castelao
Jenny Chang-Claude
Stephen J Chanock
Wendy K Chung
Kathleen B. M Claes
Christine L Clarke
Don M 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 M Eccles
A. Heather Eliassen
Christoph Engel
Mikael Eriksson
D. Gareth Evans
Peter A Fasching
Henrik Flyger
Florentia Fostira
Eitan Friedman
Lin Fritschi
Debra Frost
Manuela Gago-Dominguez
Susan M Gapstur
Judy Garber
Vanesa Garcia-Barberan
Montserrat García-Closas
José A García-Sáenz
Mia M Gaudet
Simon A Gayther
Andrea Gehrig
Vassilios Georgoulias
Graham G Giles
Andrew K Godwin
Mark S 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 A Harrington
Steven N Hart
Wei He
Frans B. L Hogervorst
Antoinette Hollestelle
John L Hopper
Darling J Horcasitas
Peter J Hulick
David J Hunter
Evgeny N Imyanitov
Agnes Jager
Anna Jakubowska
Paul A James
Uffe Birk Jensen
Esther M John
Michael E Jones
Rudolf Kaaks
Pooja Middha Kapoor
Beth Y Karlan
Renske Keeman
Elza Khusnutdinova
Johanna I Kiiski
Yon-Dschun Ko
Veli-Matti Kosma
Peter Kraft
Allison W Kurian
Yael Laitman
Diether Lambrechts
Loic Le Marchand
Jenny Lester
Fabienne Lesueur
Tricia Lindstrom
Adria Lopez-Fernández
Jennifer T Loud
Craig Luccarini
Arto Mannermaa
Siranoush Manoukian
Sara Margolin
John W. M Martens
Noura Mebirouk
Alfons Meindl
Austin Miller
Roger L Milne
Marco Montagna
Katherine L Nathanson
Susan L Neuhausen
Heli Nevanlinna
Finn C Nielsen
Katie M O’Brien
Olufunmilayo I Olopade
Janet E Olson
Håkan Olsson
Ana Osorio
Laura Ottini
Tjoung-Won Park-Simon
Michael T Parsons
Inge Sokilde Pedersen
Beth Peshkin
Paolo Peterlongo
Julian Peto
Paul D. P Pharoah
Kelly-Anne Phillips
Eric C Polley
Bruce Poppe
Nadege Presneau
Miquel Angel Pujana
Kevin Punie
Paolo Radice
Johanna Rantala
Muhammad U Rashid
Gad Rennert
Hedy S Rennert
Mark Robson
Atocha Romero
Maria Rossing
Emmanouil Saloustros
Dale P Sandler
Regina Santella
Maren T Scheuner
Marjanka K Schmidt
Gunnar Schmidt
Christopher Scott
Priyanka Sharma
Penny Soucy
Melissa C Southey
John J Spinelli
Zoe Steinsnyder
Jennifer Stone
Dominique Stoppa-Lyonnet
Anthony 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
Thérèse 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
Douglas F Easton
Nadine Andrieu
Antonis C Antoniou
Ophélie Bertrand
Sandrine Caputo
Anaïs Dupré
Marine Le Mentec
Muriel Belotti
Anne-Marie Birot
Bruno Buecher
Emmanuelle Fourme
Marion Gauthier-Villars
Lisa Golmard
Claude Houdayer
Virginie Moncoutier
Antoine de Pauw
Claire Saule
Olga Sinilnikova
Sylvie Mazoyer
Francesca Damiola
Laure Barjhoux
Carole Verny-Pierre
Mélanie Léone
Nadia Boutry-Kryza
Alain Calender
Sophie Giraud
Olivier Caron
Marine Guillaud-Bataille
Brigitte Bressac-de-Paillerets
Yves- Jean Bignon
Nancy Uhrhammer
Christine Lasset
Valérie Bonadona
Pascaline Berthet
Dominique Vaur
Laurent Castera
Tetsuro Noguchi
Cornel Popovici
Hagay Sobol
Violaine Bourdon
Audrey Remenieras
Catherine Noguès
Isabelle Coupier
Pascal Pujol
Aurélie Dumont
Françoise Révillion
Claude Adenis
Danièle Muller
Emmanuelle Barouk-Simonet
Françoise Bonnet
Virginie Bubien
Nicolas Sevenet
Michel Longy
Christine Toulas
Rosine Guimbaud
Laurence Gladieff
Viviane Feillel
Dominique Leroux
Hélène Dreyfus
Christine Rebischung
Magalie Peysselon
Fanny Coron
Laurence Faivre
Amandine Baurand
Caroline Jacquot
Geoffrey Bertolone
Sarab Lizard
Fabienne Prieur
Marine Lebrun
Caroline Kientz
Sandra Fert Ferrer
Véronique Mari
Laurence Vénat-Bouvet
Capucine Delnatte
Stéphane Bézieau
Isabelle Mortemousque
Florence Coulet
Chrystelle Colas
Florent Soubrier
Mathilde Warcoin
Johanna Sokolowska
Myriam Bronner
Marie-Agnès Collonge-Rame
Alexandre Damette
Paul Gesta
Hakima Lallaoui
Jean Chiesa
Denise Molina-Gomes
Olivier Ingster
Helen Gregory
Zosia Miedzybrodzka
Patrick J Morrison
Kai-ren Ong
Alan Donaldson
Mark T Rogers
M. John Kennedy
Mary E Porteous
Carole Brewer
Rosemarie Davidson
Louise Izatt
Angela Brady
Julian Barwell
Julian Adlard
Claire Foo
Fiona Lalloo
Lucy E Side
Jacqueline Eason
Alex Henderson
Lisa Walker
Rosalind A Eeles
Jackie Cook
Katie Snape
Diana Eccles
Alex Murray
Emma McCann
Stephen Fox
Ian Campbell
Amanda Spurdle
Penny Webb
Anna de Fazio
Margaret Tassell
Judy Kirk
Geoff Lindeman
Melanie Price
Melissa Southey
Roger Milne
Sid Deb
David Bowtell
Annemieke H van der Hout
Ans M. W van den Ouweland
Arjen R Mensenkamp
Carolien H. M van Deurzen
Carolien M Kets
Caroline Seynaeve
Christi J van Asperen
Cora M Aalfs
Encarna B Gómez Garcia
Flora E van Leeuwen
G. H de Bock
Hanne E. J Meijers-Heijboer
Inge M Obdeijn
J. Margriet Collée
J. J. P Gille
Jan C Oosterwijk
Juul T Wijnen
Lizet E van der Kolk
Maartje J Hooning
Margreet G. E. M Ausems
Marian J. E Mourits
Marinus J Blok
Matti A Rookus
Rob B van der Luijt
T. C. T. E. F van Cronenburg
Carmen C van der Pol
Nicola S Russell
Sabine Siesling
Lucy Overbeek
R Wijnands
Judith L de Lange
Christine Clarke
Dinny Graham
Mythily Sachchithananthan
Deborah Marsh
Rodney Scott
Robert Baxter
Desmond Yip
Jane Carpenter
Alison Davis
Nirmala Pathmanathan
Peter Simpson
Éditeur: Nature Publishing Group UK
Identifiants: 99159087709311
Unité académique: Maladies Infectieuses et Vecteurs : Ecologie, Génétique, Evolution et Contrôle - MIVEGEC
Langue: English
Type de ressource: Journal article