Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
BRCA1/2
PRS
breast cancer
genetics
ovarian cancer
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
27
11
2019
accepted:
29
05
2020
revised:
28
05
2020
pubmed:
16
7
2020
medline:
24
4
2021
entrez:
16
7
2020
Statut:
ppublish
Résumé
We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. Retrospective cohort data on 18,935 BRCA1 and 12,339 BRCA2 female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. The ER-negative PRS showed the strongest association with BC risk for BRCA1 carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33], P = 3×10 Population-based PRS are strongly associated with BC and EOC risks for BRCA1/2 carriers and predict substantial absolute risk differences for women at PRS distribution extremes.
Identifiants
pubmed: 32665703
doi: 10.1038/s41436-020-0862-x
pii: S1098-3600(21)00750-4
pmc: PMC7521995
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1653-1666Subventions
Organisme : NCI NIH HHS
ID : U10 CA180868
Pays : United States
Organisme : NCI NIH HHS
ID : UG1 CA189867
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002538
Pays : United States
Organisme : Cancer Research UK
ID : 11174
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NIGMS NIH HHS
ID : P20 GM130423
Pays : United States
Organisme : NCI NIH HHS
ID : UG1 CA233191
Pays : United States
Organisme : NCI NIH HHS
ID : U10 CA180822
Pays : United States
Organisme : Wellcome Trust
ID : 203477/Z/16/Z
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : P30 CA016672
Pays : United States
Investigateurs
Pascaline Berthet
(P)
Chrystelle Colas
(C)
Marie-Agnès Collonge-Rame
(MA)
Capucine Delnatte
(C)
Laurence Faivre
(L)
Sophie Giraud
(S)
Christine Lasset
(C)
Véronique Mari
(V)
Noura Mebirouk
(N)
Emmanuelle Mouret-Fourme
(E)
Hélène Schuster
(H)
Dominique Stoppa-Lyonnet
(D)
Julian Adlard
(J)
Munaza Ahmed
(M)
Antonis Antoniou
(A)
Daniel Barrowdale
(D)
Paul Brennan
(P)
Carole Brewer
(C)
Jackie Cook
(J)
Rosemarie Davidson
(R)
Douglas Easton
(D)
Ros Eeles
(R)
D Gareth Evans
(DG)
Debra Frost
(D)
Helen Hanson
(H)
Louise Izatt
(L)
Kai-Ren Ong
(KR)
Lucy Side
(L)
Aoife O'Shaughnessy-Kirwan
(A)
Marc Tischkowitz
(M)
Lisa Walker
(L)
Georgia Chenevix-Trench
(G)
Kelly-Anne Phillips
(KA)
Amanda Spurdle
(A)
Marinus Blok
(M)
Peter Devilee
(P)
Frans Hogervorst
(F)
Maartje Hooning
(M)
Marco Koudijs
(M)
Arjen Mensenkamp
(A)
Hanne Meijers-Heijboer
(H)
Matti Rookus
(M)
Klaartje van Engelen
(KV)
Nadine Andrieu
(N)
Catherine Noguès
(C)
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