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

Yue Jiao; Thérèse Truong; Séverine Eon-Marchais; Noura Mebirouk; Sandrine M. Caputo; Marie-Gabrielle Dondon; Mojgan Karimi; Dorothée Le Gal; Juana Beauvallet; Édith Le Floch; Claire Dandine-Roulland; Delphine Bacq-Daian; Robert Olaso; Juliette Albuisson; Séverine Audebert-Bellanger; Pascaline Berthet; Valérie Bonadona; Bruno Buecher; Olivier Caron; Mathias Cavaillé; Jean Chiesa; Chrystelle Colas; Marie-Agnès Collonge-Rame; Isabelle Coupier; Capucine Delnatte; Antoine De Pauw; Hélène Dreyfus; Sandra Fert-Ferrer; Marion Gauthier-Villars; Paul Gesta; Sophie Giraud; Laurence Gladieff; Lisa Golmard; Christine Lasset; Sophie Lejeune-Dumoulin; Mélanie Léoné; Jean-Marc Limacher; Alain Lortholary; Élisabeth Luporsi; Véronique Mari; Christine M. Maugard; Isabelle Mortemousque; Emmanuelle Mouret-Fourme; Sophie Nambot; Catherine Noguès; Cornel Popovici; Fabienne Prieur; Pascal Pujol; Nicolas Sevenet; Hagay Sobol; Christine Toulas; Nancy Uhrhammer; Dominique Vaur; Laurence Venat; Anne Boland-Augé; Pascal Guénel; Jean-François Deleuze; Dominique Stoppa-Lyonnet; Nadine Andrieu; Fabienne Lesueur

doi:10.1016/j.ejca.2022.11.007

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

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

Yue Jiao, Thérèse Truong, Séverine Eon-Marchais, Noura Mebirouk, Sandrine M. Caputo, Marie-Gabrielle Dondon, Mojgan Karimi, Dorothée Le Gal, Juana Beauvallet, Édith Le Floch, …

European journal of cancer (1990), Vol.179, pp.76-86

01/2023

DOI: https://doi.org/10.1016/j.ejca.2022.11.007

PMID: 36509001

Résumé

BRCA1

BRCA2

Breast cancer

Genetic susceptibility

Polygenic risk score

Risk prediction

SNP

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. 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. 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). 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. •Three polygenic risk scores for breast cancer assessed in 3 groups of French women.•All of them associated with breast cancer but effects varied depending on group.•Predictive ability is higher in women with no BRCA1 or BRCA2 pathogenic variant.•Opportunity to refine risk stratification in carriers of a moderate-risk variant.•Effects of SNPs in polygenic risk scores vary depending on country and population.

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Titre: Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease
Créateurs - sans rôle: Yue Jiao - Inserm
Thérèse Truong - Université Paris-Saclay
Séverine Eon-Marchais - INSERM, U900, Paris, France
Noura Mebirouk - Inserm
Sandrine M. Caputo - PSL Research University, Paris, France
Marie-Gabrielle Dondon - INSERM, U900, Paris, France
Mojgan Karimi - Université Paris-Saclay
Dorothée Le Gal - Inserm
Juana Beauvallet - Inserm
Édith Le Floch - Centre National de Recherche en Génomique Humaine
Claire Dandine-Roulland - Centre National de Recherche en Génomique Humaine
Delphine Bacq-Daian - Centre National de Recherche en Génomique Humaine
Robert Olaso - Centre National de Recherche en Génomique Humaine
Juliette Albuisson - Centre de Lutte contre le Cancer Georges François Leclerc, Dijon, France
Séverine Audebert-Bellanger - CHU Brest, Hôpital Morvan, Département de Génétique Médicale et Biologie de la Reproduction, Brest, France
Pascaline Berthet - Département de Biopathologie, Centre François Baclesse, Caen, France
Valérie Bonadona - Université Claude Bernard Lyon 1
Bruno Buecher - Université Paris Sciences et Lettres
Olivier Caron - Gustave Roussy, Département de Médecine Oncologique, Villejuif, France
Mathias Cavaillé - Université Clermont Auvergne, UMR INSERM, U1240, Clermont Ferrand, France
Jean Chiesa - UF de Génétique Médicale et Cytogénétique, CHRU Caremeau, Nîmes, France
Chrystelle Colas - Université Paris Sciences et Lettres
Marie-Agnès Collonge-Rame - Service Génétique et Biologie du Développement – Histologie, CHU Hôpital Saint-Jacques, Besançon, France
Isabelle Coupier - Hôpital Arnaud de Villeneuve
Capucine Delnatte - Institut de Cancérologie de l'Ouest
Antoine De Pauw - Université Paris Sciences et Lettres
Hélène Dreyfus - Clinique Sainte Catherine, Avignon, CHU de Grenoble, Grenoble, France
Sandra Fert-Ferrer - Service de Génétique, Centre Hospitalier de Chambéry, Chambéry, France
Marion Gauthier-Villars - PSL Research University, Paris, France
Paul Gesta - CH Georges Renon, Service d’Oncogénétique Régional Poitou-Charentes, Niort, France
Sophie Giraud - Hospices Civils de Lyon
Laurence Gladieff - Institut Claudius Regaud
Lisa Golmard - Université Paris Sciences et Lettres
Christine Lasset - Université Claude Bernard Lyon 1
Sophie Lejeune-Dumoulin - CHU Lille, Service de Génétique Clinique Guy Fontaine, Lille, France
Mélanie Léoné - Hospices Civils de Lyon, Service de Génétique, Groupement Hospitalier Est, Bron, France
Jean-Marc Limacher - Hôpital Pasteur, Service d’Onco-hématologie, Colmar, France
Alain Lortholary - Service d’Oncologie Médicale, Centre Catherine de Sienne, Nantes, France
Élisabeth Luporsi - Centre Hospitalier Régional de Metz-Thionville
Véronique Mari - Centre Antoine Lacassagne
Christine M. Maugard - Génétique Oncologique Moléculaire, UF1422, Département d’Oncobiologie, LBBM, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
Isabelle Mortemousque - Hôpital Bretonneau, Service de Génétique, Tours, France
Emmanuelle Mouret-Fourme - Université Paris Sciences et Lettres
Sophie Nambot - Centre de Lutte contre le Cancer Georges François Leclerc, Dijon, France
Catherine Noguès - Département d’Anticipation et de Suivi des Cancers, Oncogénétique Clinique, Institut Paoli-Calmettes, Marseille, France
Cornel Popovici - Institut Paoli-Calmettes
Fabienne Prieur
Pascal Pujol - Hôpital Arnaud de Villeneuve
Nicolas Sevenet - Institut Bergonié
Hagay Sobol - Institut Paoli-Calmettes
Christine Toulas - Institut Claudius Regaud
Nancy Uhrhammer - Centre Jean Perrin
Dominique Vaur - Département de Biopathologie, Centre François Baclesse, Caen, France
Laurence Venat - Hôpital Universitaire Dupuytren, Service d’Oncologie Médicale, Limoges, France
Anne Boland-Augé - Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France
Pascal Guénel - Université Paris-Saclay, UVSQ, INSERM, U1018, Gustave Roussy, CESP, Team Exposome and Heredity, Villejuif, France
Jean-François Deleuze - Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France
Dominique Stoppa-Lyonnet - Department of Genetics, Institut Curie, Paris, France
Nadine Andrieu - Inserm
Fabienne Lesueur - INSERM, U900, Paris, France
Détails de publication: European journal of cancer (1990), Vol.179, pp.76-86
Éditeur: Elsevier Ltd
Nombre de pages: 11
Identifiants: 99159093109311
Unité académique: Maladies Infectieuses et Vecteurs : Ecologie, Génétique, Evolution et Contrôle - MIVEGEC; Institut des Biomolécules Max Mousseron - IBMM
Langue: English
Type de ressource: Journal article