Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease - Institut Gustave Roussy Access content directly
Journal Articles European Journal of Cancer Year : 2023

Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease

Yue Jiao
  • Function : Author
Séverine Eon-Marchais
  • Function : Author
  • PersonId : 905847
Noura Mebirouk
  • Function : Author
S. M. Caputo
Marie Gabrielle Dondon
  • Function : Author
Dorothée Le Gal
  • Function : Author
Juana Beauvallet
  • Function : Author
Juliette Albuisson
Séverine Audebert-Bellanger
  • Function : Author
Pascaline Berthet
  • Function : Author
Valérie Bonadona
  • Function : Author
Bruno Buecher
  • Function : Author
Olivier Md Msc Caron
  • Function : Author
Jean Chiesa
  • Function : Author
Chrystelle Colas
  • Function : Author
Marie Agnès Collonge-Rame
  • Function : Author
Isabelle Coupier
  • Function : Author
Capucine D. Delnatte
  • Function : Author
Antoine de Pauw
  • Function : Author
Hélène Dreyfus
  • Function : Author
Sandra Fert-Ferrer
  • Function : Author
Marion Gauthier-Villars
  • Function : Author
Paul H. Gesta
  • Function : Author
Sophie Giraud
  • Function : Author
Laurence Gladieff
  • Function : Author
Lisa Golmard
  • Function : Author
Christine Lasset
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Sophie Lejeune-Dumoulin
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Mélanie Léoné
  • Function : Author
Jean Marc Limacher
  • Function : Author
Alain H. Lortholary
  • Function : Author
Elisabethe Luporsi
  • Function : Author
Véronique Mari
  • Function : Author
Christine M. Maugard
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Isabelle Mortemousque
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Emmanuelle Mouret-Fourme
  • Function : Author
Sophie Nambot
  • Function : Author
Catherine Noguès
Cornel Popovici
  • Function : Author
Fabienne Prieur
  • Function : Author
Pascal Pujol
  • Function : Author
Nicolas Sevenet
  • Function : Author
Hagay H. Sobol
  • Function : Author
Christine Toulas
  • Function : Author
Dominique Vaur
  • Function : Author
Laurence Venat
  • Function : Author
Dominique Stoppa-Lyonnet
Nadine Andrieu
  • Function : Author
Fabienne El Khoury Lesueur
  • Function : Correspondent author
  • PersonId : 1064009

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Abstract

Background: Three partially overlapping breast cancer polygenic risk scores (PRS) comprising 77, 179 and 313 SNPs have been proposed for European-ancestry women by the Breast Cancer Association Consortium (BCAC) for improving risk prediction in the general population. However, the effect of these SNPs may vary from one country to another and within a country because of other factors. Objective: To assess their associated risk and predictive performance in French women from (1) the CECILE population-based case-control study, (2) BRCA1 or BRCA2 (BRCA1/2) pathogenic variant (PV) carriers from the GEMO study, and (3) familial breast cancer cases with no BRCA1/2 PV and unrelated controls from the GENESIS study. Results: All three PRS were associated with breast cancer in all studies, with odds ratios per standard deviation varying from 1.7 to 2.0 in CECILE and GENESIS, and hazard ratios varying from 1.1 to 1.4 in GEMO. The predictive performance of PRS313 in CECILE was similar to that reported in BCAC but lower than that in GENESIS (area under the receiver operating characteristic curve (AUC) = 0.67 and 0.75, respectively). PRS were less performant in BRCA2 and BRCA1 PV carriers (AUC = 0.58 and 0.54 respectively). Conclusion: Our results are in line with previous validation studies in the general population and in BRCA1/2 PV carriers. Additionally, we showed that PRS may be of clinical utility for women with a strong family history of breast cancer and no BRCA1/2 PV, and for those carrying a predicted PV in a moderate-risk gene like ATM, CHEK2 or PALB2.
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hal-03949597 , version 1 (11-02-2023)

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Yue Jiao, Thérèse Truong, Séverine Eon-Marchais, Noura Mebirouk, S. M. Caputo, et al.. Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease. European Journal of Cancer, 2023, 179, pp.76-86. ⟨10.1016/j.ejca.2022.11.007⟩. ⟨hal-03949597⟩
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