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

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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. / GEMO Study Collaborators; EMBRACE Collaborators; KConFab Investigators; HEBON Investigators; ABCTB Investigators.

I: Nature Communications, Bind 12, Nr. 1, 1078, 2021.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

Harvard

GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators & ABCTB Investigators 2021, 'A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers', Nature Communications, bind 12, nr. 1, 1078. https://doi.org/10.1038/s41467-020-20496-3

APA

GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, & ABCTB Investigators (2021). A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nature Communications, 12(1), [1078]. https://doi.org/10.1038/s41467-020-20496-3

CBE

GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators. 2021. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nature Communications. 12(1):Article 1078. https://doi.org/10.1038/s41467-020-20496-3

MLA

Vancouver

GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nature Communications. 2021;12(1). 1078. https://doi.org/10.1038/s41467-020-20496-3

Author

GEMO Study Collaborators ; EMBRACE Collaborators ; KConFab Investigators ; HEBON Investigators ; ABCTB Investigators. / A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. I: Nature Communications. 2021 ; Bind 12, Nr. 1.

Bibtex

@article{6dd1114cc8b7430cbaefd8b81581a2bd,
title = "A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers",
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 < 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.",
author = "Juliette Coignard and Michael Lush and Jonathan Beesley and O{\textquoteright}Mara, {Tracy A.} and Joe Dennis and Tyrer, {Jonathan P.} and Barnes, {Daniel R.} and Lesley McGuffog and Goska Leslie and Bolla, {Manjeet K.} and Adank, {Muriel A.} and Simona Agata and Thomas Ahearn and Kristiina Aittom{\"a}ki and Andrulis, {Irene L.} and Hoda Anton-Culver and Volker Arndt and Norbert Arnold and Aronson, {Kristan J.} and Arun, {Banu K.} and Annelie Augustinsson and Jacopo Azzollini and Daniel Barrowdale and Caroline Baynes and Heko Becher and Marina Bermisheva and Leslie Bernstein and Katarzyna Bia{\l}kowska and Carl Blomqvist and Bojesen, {Stig E.} and Bernardo Bonanni and Ake Borg and Hiltrud Brauch and Hermann Brenner and Barbara Burwinkel and Buys, {Saundra S.} and Trinidad Cald{\'e}s and Caligo, {Maria A.} and Daniele Campa and Carter, {Brian D.} and Castelao, {Jose E.} and Jenny Chang-Claude and Chanock, {Stephen J.} and Chung, {Wendy K.} and Claes, {Kathleen B.M.} and Clarke, {Christine L.} and Jensen, {Uffe Birk} and Nielsen, {Finn C.} and {GEMO Study Collaborators} and {EMBRACE Collaborators} and {KConFab Investigators} and {HEBON Investigators} and {ABCTB Investigators}",
note = "Publisher Copyright: {\textcopyright} 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",
year = "2021",
doi = "10.1038/s41467-020-20496-3",
language = "English",
volume = "12",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "Nature Publishing Group",
number = "1",

}

RIS

TY - JOUR

T1 - A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

AU - Coignard, Juliette

AU - Lush, Michael

AU - Beesley, Jonathan

AU - O’Mara, Tracy A.

AU - Dennis, Joe

AU - Tyrer, Jonathan P.

AU - Barnes, Daniel R.

AU - McGuffog, Lesley

AU - Leslie, Goska

AU - Bolla, Manjeet K.

AU - Adank, Muriel A.

AU - Agata, Simona

AU - Ahearn, Thomas

AU - Aittomäki, Kristiina

AU - Andrulis, Irene L.

AU - Anton-Culver, Hoda

AU - Arndt, Volker

AU - Arnold, Norbert

AU - Aronson, Kristan J.

AU - Arun, Banu K.

AU - Augustinsson, Annelie

AU - Azzollini, Jacopo

AU - Barrowdale, Daniel

AU - Baynes, Caroline

AU - Becher, Heko

AU - Bermisheva, Marina

AU - Bernstein, Leslie

AU - Białkowska, Katarzyna

AU - Blomqvist, Carl

AU - Bojesen, Stig E.

AU - Bonanni, Bernardo

AU - Borg, Ake

AU - Brauch, Hiltrud

AU - Brenner, Hermann

AU - Burwinkel, Barbara

AU - Buys, Saundra S.

AU - Caldés, Trinidad

AU - Caligo, Maria A.

AU - Campa, Daniele

AU - Carter, Brian D.

AU - Castelao, Jose E.

AU - Chang-Claude, Jenny

AU - Chanock, Stephen J.

AU - Chung, Wendy K.

AU - Claes, Kathleen B.M.

AU - Clarke, Christine L.

AU - Jensen, Uffe Birk

AU - Nielsen, Finn C.

AU - GEMO Study Collaborators

AU - EMBRACE Collaborators

AU - KConFab Investigators

AU - HEBON Investigators

AU - ABCTB Investigators

N1 - Publisher Copyright: © 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85101270098&partnerID=8YFLogxK

U2 - 10.1038/s41467-020-20496-3

DO - 10.1038/s41467-020-20496-3

M3 - Journal article

C2 - 33597508

AN - SCOPUS:85101270098

VL - 12

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

IS - 1

M1 - 1078

ER -