The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

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The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. / GEMO Study Collaborators; EMBRACE Collaborators; OCGN Investigators; HEBON Investigators; kConFab Investigators.

I: Genetics in Medicine, Bind 23, Nr. 9, 2021, s. 1726-1737.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators & kConFab Investigators 2021, 'The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant', Genetics in Medicine, bind 23, nr. 9, s. 1726-1737. https://doi.org/10.1038/s41436-021-01198-7

APA

GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators, & kConFab Investigators (2021). The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genetics in Medicine, 23(9), 1726-1737. https://doi.org/10.1038/s41436-021-01198-7

Vancouver

GEMO Study Collaborators, EMBRACE Collaborators, OCGN Investigators, HEBON Investigators, kConFab Investigators. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genetics in Medicine. 2021;23(9):1726-1737. https://doi.org/10.1038/s41436-021-01198-7

Author

GEMO Study Collaborators ; EMBRACE Collaborators ; OCGN Investigators ; HEBON Investigators ; kConFab Investigators. / The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. I: Genetics in Medicine. 2021 ; Bind 23, Nr. 9. s. 1726-1737.

Bibtex

@article{0499f29196f44138825241f9604416ce,
title = "The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant",
abstract = "Purpose: To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS313 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. Conclusion: The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making.",
author = "Lakeman, {Inge M.M.} and {van den Broek}, {Alexandra J.} and Vos, {Juli{\"e}n A.M.} and Barnes, {Daniel R.} and Julian Adlard and Andrulis, {Irene L.} and Adalgeir Arason and Norbert Arnold and Arun, {Banu K.} and Judith Balma{\~n}a and Daniel Barrowdale and Javier Benitez and Ake Borg and Trinidad Cald{\'e}s and Caligo, {Maria A.} and Chung, {Wendy K.} and Claes, {Kathleen B.M.} and Emmanuelle Barouk-Simonet and Muriel Belotti and Pascaline Berthet and Bignon, {Yves Jean} and Val{\'e}rie Bonadona and {Bressac-de Paillerets}, Brigitte and Bruno Buecher and Sandrine Caputo and Olivier Caron and Laurent Castera and Virginie Caux-Moncoutier and Chrystelle Colas and Collonge-Rame, {Marie Agn{\`e}s} and Isabelle Coupier and {de Pauw}, Antoine and Capucine Delnatte and Camille Elan and Laurence Faivre and Ferrer, {Sandra Fert} and Marion Gauthier-Villars and Paul Gesta and Sophie Giraud and Lisa Golmard and Claude Houdayer and Christine Lasset and Ma{\"i}t{\'e} Laurent and Dominique Leroux and Michel Longy and V{\'e}ronique Mari and Sylvie Mazoyer and Noura Mebirouk and Isabelle Mortemousque and Gerdes, {Anne Marie} and {GEMO Study Collaborators} and {EMBRACE Collaborators} and {OCGN Investigators} and {HEBON Investigators} and {kConFab Investigators}",
note = "Publisher Copyright: {\textcopyright} 2021, The Author(s).",
year = "2021",
doi = "10.1038/s41436-021-01198-7",
language = "English",
volume = "23",
pages = "1726--1737",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "nature publishing group",
number = "9",

}

RIS

TY - JOUR

T1 - The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

AU - Lakeman, Inge M.M.

AU - van den Broek, Alexandra J.

AU - Vos, Juliën A.M.

AU - Barnes, Daniel R.

AU - Adlard, Julian

AU - Andrulis, Irene L.

AU - Arason, Adalgeir

AU - Arnold, Norbert

AU - Arun, Banu K.

AU - Balmaña, Judith

AU - Barrowdale, Daniel

AU - Benitez, Javier

AU - Borg, Ake

AU - Caldés, Trinidad

AU - Caligo, Maria A.

AU - Chung, Wendy K.

AU - Claes, Kathleen B.M.

AU - Barouk-Simonet, Emmanuelle

AU - Belotti, Muriel

AU - Berthet, Pascaline

AU - Bignon, Yves Jean

AU - Bonadona, Valérie

AU - Bressac-de Paillerets, Brigitte

AU - Buecher, Bruno

AU - Caputo, Sandrine

AU - Caron, Olivier

AU - Castera, Laurent

AU - Caux-Moncoutier, Virginie

AU - Colas, Chrystelle

AU - Collonge-Rame, Marie Agnès

AU - Coupier, Isabelle

AU - de Pauw, Antoine

AU - Delnatte, Capucine

AU - Elan, Camille

AU - Faivre, Laurence

AU - Ferrer, Sandra Fert

AU - Gauthier-Villars, Marion

AU - Gesta, Paul

AU - Giraud, Sophie

AU - Golmard, Lisa

AU - Houdayer, Claude

AU - Lasset, Christine

AU - Laurent, Maïté

AU - Leroux, Dominique

AU - Longy, Michel

AU - Mari, Véronique

AU - Mazoyer, Sylvie

AU - Mebirouk, Noura

AU - Mortemousque, Isabelle

AU - Gerdes, Anne Marie

AU - GEMO Study Collaborators

AU - EMBRACE Collaborators

AU - OCGN Investigators

AU - HEBON Investigators

AU - kConFab Investigators

N1 - Publisher Copyright: © 2021, The Author(s).

PY - 2021

Y1 - 2021

N2 - Purpose: To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS313 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. Conclusion: The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making.

AB - Purpose: To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results: For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC < age 40 years, the cumulative PRS313 5th and 95th percentile 10-year CBC risks were 22% and 32% for BRCA1 and 13% and 23% for BRCA2 heterozygotes, respectively. Conclusion: The PRS313 can be used to refine individual CBC risks for BRCA1/2 heterozygotes of European ancestry, however the PRS313 needs to be considered in the context of a multifactorial risk model to evaluate whether it might influence clinical decision-making.

U2 - 10.1038/s41436-021-01198-7

DO - 10.1038/s41436-021-01198-7

M3 - Journal article

C2 - 34113011

AN - SCOPUS:85115935642

VL - 23

SP - 1726

EP - 1737

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 9

ER -

ID: 302065924