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

被引：6

作者：

Jiao, Yue ^{[1
,2
,3
,4
]}

Truong, Therese ^{[5
]}

Eon-Marchais, Severine ^{[1
,2
,3
,4
]}

Mebirouk, Noura ^{[1
,2
,3
,4
]}

Caputo, Sandrine M. ^{[4
,6
]}

Dondon, Marie-Gabrielle ^{[1
,2
,3
,4
]}

Karimi, Mojgan ^{[5
]}

Le Gal, Dorothee ^{[1
,2
,3
,4
]}

Beauvallet, Juana ^{[1
,2
,3
,4
]}

Le Floch, Edith ^{[7
]}

Dandine-Roulland, Claire ^{[7
]}

Bacq-Daian, Delphine ^{[7
]}

Olaso, Robert ^{[7
]}

Albuisson, Juliette ^{[8
]}

Audebert-Bellanger, Severine ^{[9
]}

Berthet, Pascaline ^{[10
,11
]}

Bonadona, Valerie ^{[12
,45
]}

Buecher, Bruno ^{[4
]}

Caron, Olivier ^{[13
]}

Cavaille, Mathias ^{[14
,15
]}

Chiesa, Jean ^{[16
]}

Colas, Chrystelle ^{[4
,17
]}

Collonge-Rame, Marie-Agnes ^{[18
]}

Coupier, Isabelle ^{[19
,20
]}

Delnatte, Capucine ^{[21
]}

De Pauw, Antoine ^{[4
]}

Dreyfus, Helene ^{[22
,23
]}

Fert-Ferrer, Sandra ^{[24
]}

Gauthier-Villars, Marion ^{[4
]}

Gesta, Paul ^{[25
]}

Giraud, Sophie ^{[26
]}

Gladieff, Laurence ^{[27
]}

Golmard, Lisa ^{[4
]}

Lasset, Christine ^{[12
,45
]}

Lejeune-Dumoulin, Sophie ^{[28
]}

Leone, Melanie ^{[26
]}

Limacher, Jean-Marc ^{[29
]}

Lortholary, Alain ^{[30
,31
]}

Luporsi, Elisabeth ^{[32
]}

Mari, Veronique ^{[33
]}

Maugard, Christine M. ^{[34
,35
]}

Mortemousque, Isabelle ^{[36
]}

Mouret-Fourme, Emmanuelle ^{[4
,6
]}

Nambot, Sophie ^{[8
,37
,46
]}

Nogues, Catherine ^{[38
,39
]}

Popovici, Cornel ^{[38
]}

Prieur, Fabienne ^{[40
]}

Pujol, Pascal ^{[19
,20
]}

Sevenet, Nicolas ^{[41
]}

Sobol, Hagay ^{[38
]}

机构：

[1] INSERM, U900, Paris, France

[2] Inst Curie, Paris, France

[3] Mines ParisTech, Fontainebleau, France

[4] PSL Res Univ, Paris, France

[5] Univ Paris Saclay, Team Exposome & Hered, UVSQ, INSERM,U1018,Gustave Roussy,CESP, Villejuif, France

[6] Inst Curie, Dept Genet, Paris, France

[7] Univ Paris Saclay, Inst Biol Francois Jacob, Ctr Natl Rech Genom Humaine, CEA, Evry, France

[8] Ctr Lutte Canc Georges Francois Leclerc, Dijon, France

[9] CHU Brest, Hop Morvan, Dept Genet Med & Biol Reprod, Brest, France

[10] Ctr Francois Baclesse, Dept Biopathol, Caen, France

[11] INSERM, U1245, Rouen, France

[12] Univ Claude Bernard Lyon 1, Villeurbanne, France

[13] Gustave Roussy, Dept Med Oncol, Villejuif, France

[14] Univ Clermont Auvergne, UMR INSERM, U1240, Clermont Ferrand, France

[15] Ctr Jean Perrin, Dept Oncogenet, Clermont Ferrand, France

[16] CHRU Caremeau, UF Genet Med & Cytogenet, Niimes, France

[17] INSERM, U830, Paris, France

[18] Hop St Jacques, CHU, Serv Genet & Biol Dev Histol, Besancon, France

[19] CHU Montpellier, Hop Arnaud de Villeneuve, Serv Genet Med & Oncogenet, Montpellier, France

[20] CRCM Val Aurelle, INSERM, U896, Montpellier, France

[21] Inst Cancerol Ouest, Unite Oncogenet, St Herblain, France

[22] CHU Grenoble, Clin St Catherine, Grenoble, France

[23] Hop Couple Enfant, Dept Genet, Grenoble, France

[24] Ctr Hosp Chambery, Serv Genet, Chambery, France

[25] CH Georges Renon, Serv Oncogenet Reg Poitou Charentes, Niort, France

[26] Grp Hosp Est, Hosp Civils Lyon, Serv Genet, Bron, France

[27] Inst Claudius Regaud IUCT Oncopole, Serv Oncol Med, Toulouse, France

[28] CHU Lille, Serv Genet Clin Guy Fontaine, Lille, France

[29] Hop Louis Pasteur, Serv Oncohematol, Colmar, France

[30] Ctr Catherine Sienne, Serv Oncol Med, Nantes, France

[31] Hop Prive Confluent, Nantes, France

[32] Hop Mercy, CHR Metz Thionville, Serv Genet UF4128, Metz, France

[33] Ctr Antoine Lacassagne, Unite Oncogenet, Nice, France

[34] Hop Univ Strasbourg, Genet Oncol Mol, UF1422, LBBM,Dept Oncobiol, Strasbourg, France

[35] UF6948 Genet Oncol Clin Evaluat Familiale & Suivi, Strasbourg, France

[36] Hop Bretonneau, Serv Genet, Tours, France

[37] Hop Enfants, CHU Dijon, Inst GIMI, Dijon, France

[38] Inst Paoli Calmettes, Dept Anticipat & Suivi Canc, Oncogenet Clin, Marseille, France

[39] Aix Marseille Univ, INSERM, IRD, SESSTIM, Marseille, France

[40] Hop Nord St Etienne, CHU St Etienne, Serv Genet, St Etienne, France

[41] Inst Bergonie, Bordeaux, France

[42] LBM OncoGenAuvergne, Ctr Jean Perrin, Clermont Ferrand, France

[43] Hop Univ Dupuytren, Serv Oncol Med, Limoges, France

[44] Univ Paris Cite, Paris, France

[45] Ctr Leon Berard, Unite Prevent & Epidemiol Genet, CNRS UMR 5558, Lyon, France

[46] Oncogenetique, Dijon, France

来源：

EUROPEAN JOURNAL OF CANCER | 2023年 / 179卷

基金：

加拿大健康研究院;

关键词：

Breast cancer; Genetic susceptibility; BRCA1; BRCA2; SNP; Polygenic risk score; Risk prediction; PREDICTION; RESOURCE;

D O I：

10.1016/j.ejca.2022.11.007

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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) path-ogenic 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 vary-ing 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 car-rying a predicted PV in a moderate-risk gene like ATM, CHEK2 or PALB2.2022 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

引用

页码：76 / 86

页数：11

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