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.
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:
09 2021
09 2021
Historique:
received:
07
08
2020
accepted:
26
04
2021
pubmed:
12
6
2021
medline:
21
10
2021
entrez:
11
6
2021
Statut:
ppublish
Résumé
To evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS 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 PRS For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS The PRS
Identifiants
pubmed: 34113011
doi: 10.1038/s41436-021-01198-7
pii: S1098-3600(21)05101-7
pmc: PMC8460445
mid: EMS128250
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
1726-1737Subventions
Organisme : Wellcome Trust
ID : 203477/Z/16/Z
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : R01 CA214545
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : Cancer Research UK
ID : C1287/A16563
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : P30 CA168524
Pays : United States
Organisme : Cancer Research UK
ID : C5047/A10692
Pays : United Kingdom
Organisme : Cancer Research UK
ID : 11174
Pays : United Kingdom
Organisme : Cancer Research UK
ID : C5047/A8384
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : Cancer Research UK
ID : C1287/A 10710
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : U19 CA148065
Pays : United States
Organisme : NIGMS NIH HHS
ID : P20 GM130423
Pays : United States
Organisme : NCI NIH HHS
ID : RC4 CA153828
Pays : United States
Organisme : Cancer Research UK
ID : 10118
Pays : United Kingdom
Organisme : Cancer Research UK
ID : C1281/A12014
Pays : United Kingdom
Organisme : Cancer Research UK
ID : C12292/A2086
Pays : United Kingdom
Organisme : Cancer Research UK
ID : A11174
Pays : United Kingdom
Organisme : NCATS NIH HHS
ID : UL1 TR000124
Pays : United States
Organisme : Cancer Research UK
ID : C12292/A11174
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : U10 CA180822
Pays : United States
Organisme : Cancer Research UK
ID : C5047/A15007
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : UM1 CA164920
Pays : United States
Organisme : NCI NIH HHS
ID : U10 CA180868
Pays : United States
Organisme : Cancer Research UK
ID : C8197/A16565
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : R01 CA192393
Pays : United States
Organisme : Cancer Research UK
ID : C1287/A10118
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : R25 CA112486
Pays : United States
Investigateurs
Emmanuelle Barouk-Simonet
(E)
Muriel Belotti
(M)
Pascaline Berthet
(P)
Yves-Jean Bignon
(YJ)
Valérie Bonadona
(V)
Brigitte Bressac-de Paillerets
(B)
Bruno Buecher
(B)
Sandrine Caputo
(S)
Olivier Caron
(O)
Laurent Castera
(L)
Virginie Caux-Moncoutier
(V)
Chrystelle Colas
(C)
Marie-Agnès Collonge-Rame
(MA)
Isabelle Coupier
(I)
Antoine de Pauw
(A)
Capucine Delnatte
(C)
Camille Elan
(C)
Laurence Faivre
(L)
Sandra Fert Ferrer
(SF)
Marion Gauthier-Villars
(M)
Paul Gesta
(P)
Sophie Giraud
(S)
Lisa Golmard
(L)
Claude Houdayer
(C)
Christine Lasset
(C)
Maïté Laurent
(M)
Dominique Leroux
(D)
Michel Longy
(M)
Véronique Mari
(V)
Sylvie Mazoyer
(S)
Noura Mebirouk
(N)
Isabelle Mortemousque
(I)
Fabienne Prieur
(F)
Pascal Pujol
(P)
Claire Saule
(C)
Helene Schuster
(H)
Nicolas Sevenet
(N)
Hagay Sobol
(H)
Johanna Sokolowska
(J)
Laurence Venat-Bouvet
(L)
Munaza Ahmed
(M)
Julian Barwell
(J)
Angela Brady
(A)
Paul Brennan
(P)
Carole Brewer
(C)
Jackie Cook
(J)
Rosemarie Davidson
(R)
Alan Donaldson
(A)
Alison M Dunning
(AM)
Jacqueline Eason
(J)
Diana M Eccles
(DM)
Helen Gregory
(H)
Helen Hanson
(H)
Patricia A Harrington
(PA)
Alex Henderson
(A)
Shirley Hodgson
(S)
M John Kennedy
(MJ)
Fiona Lalloo
(F)
Clare Miller
(C)
Patrick J Morrison
(PJ)
Kai-Ren Ong
(KR)
Aoife O'Shaughnessy-Kirwan
(A)
Jo Perkins
(J)
Mary E Porteous
(ME)
Mark T Rogers
(MT)
Lucy E Side
(LE)
Katie Snape
(K)
Lisa Walker
(L)
Gord Glendon
(G)
Anna Marie Mulligan
(AM)
Christi J van Asperen
(CJ)
Cora M Aalfs
(CM)
Muriel A Adank
(MA)
Margreet G E M Ausems
(MGEM)
Marinus J Blok
(MJ)
Encarna B Gómez Garcia
(EB)
Bernadette A M Heemskerk-Gerritsen
(BAM)
Antoinette Hollestelle
(A)
Agnes Jager
(A)
Linetta B Koppert
(LB)
Marco Koudijs
(M)
Mieke Kriege
(M)
Hanne E J Meijers-Heijboer
(HEJ)
Arjen R Mensenkamp
(AR)
Thea M Mooij
(TM)
Jan C Oosterwijk
(JC)
Ans M W van den Ouweland
(AMW)
Frederieke H van der Baan
(FH)
Annemieke H van der Hout
(AH)
Lizet E van der Kolk
(LE)
Rob B van der Luijt
(RB)
Carolien H M van Deurzen
(CHM)
Helena C van Doorn
(HC)
Klaartje van Engelen
(K)
Liselotte P van Hest
(LP)
Theo A M van Os
(TAM)
Senno Verhoef
(S)
Maartje J Vogel
(MJ)
Juul T Wijnen
(JT)
Jonathan Beesley
(J)
Stephen Fox
(S)
Helene Holland
(H)
Kelly-Anne Phillips
(KA)
Amanda B Spurdle
(AB)
Informations de copyright
© 2021. The Author(s).
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