Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes

Maximiliano Ribeiro-Guerra; Marie-Gabrielle Dondon; Severine Eon-Marchais; Dorothee Le Gal; Juana Beauvallet; Noura Mebirouk; Muriel Belotti; Eve Cavaciuti; Claude Adenis-Lavignasse; Severine Audebert-Bellanger; Pascaline Berthet; Valerie Bonadona; Bruno Buecher; Olivier Caron; Mathias Cavaille; Jean Chiesa; Chrystelle Colas; Isabelle Coupier; Capucine Delnatte; Helene Dreyfus; Anne Fajac; Sandra Fert-Ferrer; Jean-Pierre Fricker; Marion Gauthier-Villars; Paul Gesta; Sophie Giraud; Laurence Gladieff; Christine Lasset; Sophie Lejeune-Dumoulin; Jean-Marc Limacher; Michel Longy; Alain Lortholary; Elisabeth Luporsi; Christine M. Maugard; Isabelle Mortemousque; Sophie Nambot; Catherine Nogues; Pascal Pujol; Laurence Venat-Bouvet; Florent Soubrier; Julie Tinat; Anne Tardivon; Fabienne Lesueur; Dominique Stoppa-Lyonnet; Nadine Andrieu

doi:10.3390/cancers17071062

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Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes

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Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes

Maximiliano Ribeiro-Guerra, Marie-Gabrielle Dondon, Severine Eon-Marchais, Dorothee Le Gal, Juana Beauvallet, Noura Mebirouk, Muriel Belotti, Eve Cavaciuti, Claude Adenis-Lavignasse, Severine Audebert-Bellanger, …

Cancers, Vol.17(7), p.1062

21/03/2025

DOI: https://doi.org/10.3390/cancers17071062

PMID: 40227588

Résumé

Life Sciences & Biomedicine

Oncology

Science & Technology

Background: Women with a familial predisposition to breast cancer (BC) are offered screening at earlier ages and more frequently than women from the general population. Methods: We evaluated the effect of screening mammography in 1552 BC cases with a hereditary predisposition to BC unexplained by BRCA1 or BRCA2 and 1363 unrelated controls. Participants reported their lifetime mammography exposures in a detailed questionnaire. Germline rare deleterious or predicted deleterious variants (D-PDVs) in 113 DNA repair genes were investigated in 82.5% of the women and classified according to the strength of their association with BC. Genes with an odds ratio (OR) < 0.9 was assigned to the Gene Group "Reduced", those with OR >= 0.9 and <= 1.1 to Group "Independent", and those with OR > 1.1 to Group "Increased". Results: Overall, having been exposed to mammograms (never vs. ever) was not associated with BC risk. However, an increase in BC risk of 4% (95% CI: 1-6%) per additional exposure was found under the assumption of linearity. When grouped according to D-PDV carrier status, mammograms doubled the BC risk of women carrying a D-PDV in Group "Reduced", as compared to those carrying a D-PDV in Group "Increased". Conclusions: Our study is the first to investigate the joint effect of mammogram exposure and variants in DNA repair genes other than BRCA1 and BRCA2 in women at high risk of BC; therefore, further studies are needed to verify our findings. Even though mammographic screening reduces the risk of mortality from BC, the identification of populations that are more or less susceptible to ionizing radiation may be clinically relevant.

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Titre: Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes
Créateurs - sans rôle: Maximiliano Ribeiro-Guerra - Inserm, U1331, F-75248 Paris 05, France
Marie-Gabrielle Dondon - Inserm, U1331, F-75248 Paris 05, France
Severine Eon-Marchais - Inserm, U1331, F-75248 Paris 05, France
Dorothee Le Gal - Inserm
Juana Beauvallet - Inserm
Noura Mebirouk - Inserm
Muriel Belotti - Inst Curie, Serv Genet, F-75248 Paris 05, France
Eve Cavaciuti - Inserm
Claude Adenis-Lavignasse - Polyclin Louviere, Grp Ramsay, F-59800 Lille, France
Severine Audebert-Bellanger - CHU Brest, Hop Morvan, Dept Genet Medicale & Biol Reprod, F-29200 Brest, France
Pascaline Berthet - Ctr Francois Baclesse, Unite Pathol Gynecol, F-14000 Caen, France
Valerie Bonadona - Univ Lyon 1, CNRS, UMR 5558, Lab Biometrie & Biol Evolut, F-69622 Villeurbanne, France
Bruno Buecher - Inst Curie, Serv Genet, F-75248 Paris 05, France
Olivier Caron - Gustave Roussy, Dept Med Oncol, F-94800 Villejuif, France
Mathias Cavaille - Univ Clermont Auvergne, Ctr Jean Perrin, Dept Oncogenet, Inserm,UMR 1240, F-63001 Clermont Ferrand, France
Jean Chiesa - CHRU Hop Caremeau, Serv Oncol Medicale, F-30900 Nimes, France
Chrystelle Colas - Inst Curie, Serv Genet, F-75248 Paris 05, France
Isabelle Coupier - CHU Montpellier, Hop Arnaud Villeneuve, Serv Genet Med & Oncogenet, F-34090 Montpellier, France
Capucine Delnatte - Inst Cancerol Ouest, Unite Oncogenet, F-44800 St Herblain, France
Helene Dreyfus - Clin St Catherine, F-84000 Avignon, France
Anne Fajac - Hop Tenon, Serv Oncogenet, F-75020 Paris, France
Sandra Fert-Ferrer - Ctr Hosp Metropole Savoie, Serv Genet, F-73000 Chambery, France
Jean-Pierre Fricker - Ctr Paul Strauss, Unite Oncol, F-67200 Strasbourg, France
Marion Gauthier-Villars - Inst Curie, Serv Genet, F-75248 Paris 05, France
Paul Gesta - CH Georges Renon, Serv Oncogenet Reg Poitou Charentes, F-79000 Niort, France
Sophie Giraud - Inst Bergonie, Ctr Hosp Cote Basque, F-33000 Bordeaux, France
Laurence Gladieff - IUCT Oncopole, Inst Claudius Regaud, Serv Oncol Medicale, F-31100 Toulouse, France
Christine Lasset - Univ Lyon 1, CNRS, UMR 5558, Lab Biometrie & Biol Evolut, F-69622 Villeurbanne, France
Sophie Lejeune-Dumoulin - CHU Lille, Clin Genet Med Guy Fontaine, F-59000 Lille, France
Jean-Marc Limacher - Hop Louis Pasteur, Serv Oncohematol, F-68024 Colmar, France
Michel Longy - BoRdeaux Institute of onCology
Alain Lortholary - Ctr Catherine Sienne, Serv Oncol Med, F-44200 Nantes, France
Elisabeth Luporsi - Centre Hospitalier Régional de Metz-Thionville
Christine M. Maugard - Hop Univ Strasbourg, Dept Oncobiol, Genet Oncol Mol, LBBM,UF1422, F-67200 Strasbourg, France
Isabelle Mortemousque - Hop Bretonneau, Serv Genet, F-75018 Paris, France
Sophie Nambot - CHU Dijon, Hop Enfants, Inst GIMI, Oncogenet, F-21000 Dijon, France
Catherine Nogues - Inst Paoli Calmettes, Dept Anticipat & Suivi Canc, Oncogenet Clin, F-13009 Marseille, France
Pascal Pujol - CHU Montpellier, Hop Arnaud Villeneuve, Serv Genet Med & Oncogenet, F-34090 Montpellier, France
Laurence Venat-Bouvet - Hop Univ Dupuytren, Serv Oncol Med, F-87000 Limoges, France
Florent Soubrier - SU Site Pitie Salpetriere, Fac Med, UMR S 1166, F-75013 Paris, France
Julie Tinat - CHU Bordeaux, Serv Parasitol Mycol, Grp Hosp Pellegrin, F-33000 Bordeaux, France
Anne Tardivon - Inst Curie, Serv Radiol, F-75005 Paris, France
Fabienne Lesueur - Inserm, U1331, F-75248 Paris 05, France
Dominique Stoppa-Lyonnet - Inst Curie, Serv Genet, F-75248 Paris 05, France
Nadine Andrieu - Inserm
Détails de publication: Cancers, Vol.17(7), p.1062
Éditeur: Mdpi
Nombre de pages: 20
Note de subvention: CEA BEX 5852/15-3 / Brazilian National Council for the Improvement of Higher Education-CAPES RS15/75-78 / Ligue Comite de Paris ANR-10-INBS-09 / France Genomique National infrastructure as part of the << Investissements d'Avenir >> program; Agence Nationale de la Recherche (ANR) Centre National de Recherche en Genomique Humaine (CNRGH) PJA 20151203365 / Fondation ARC pour la recherche sur le cancer; Fondation ARC pour la Recherche sur le Cancer French National Institute of Cancer (INCa); Institut National du Cancer (INCA) France INCa-DGOS-4654 / Comprehensive cancer center SiRIC (Site de Recherche Integree sur le Cancer: Grant ) Ligue Nationale contre le Cancer; Ligue nationale contre le cancer
Identifiants: 99159096309311
Unité académique: Maladies Infectieuses et Vecteurs : Ecologie, Génétique, Evolution et Contrôle - MIVEGEC
Langue: English
Type de ressource: Journal article