biostudies-literatureUnknown17(7)Ribeiro-Guerra M<h4>Background</h4>Women with a familial predisposition to breast cancer (BC) are offered screening at earlier ages and more frequently than women from the general population.<h4>Methods</h4>We evaluated the effect of screening mammography in 1552 BC cases with a hereditary predisposition to BC unexplained by <i>BRCA1</i> or <i>BRCA2</i> 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 thosCancers1062https://www.ebi.ac.uk/biostudies/studies/S-EPMC11987804biostudies-literatureScreening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes.PMC11987804Caron OGiraud SCavaciuti ELongy MDondon MGLortholary ALesueur FCavaille MBeauvallet JFajac AMortemousque ILe Gal DLasset CAudebert-Bellanger SPujol PVenat-Bouvet LMebirouk NLejeune-Dumoulin SSoubrier FMaugard CMFricker JPBonadona VGladieff LAndrieu NDreyfus HFert-Ferrer SRibeiro-Guerra MBerthet PLuporsi ECoupier ITinat JDelnatte CGesta PAdenis-Lavignasse CBelotti MTardivon AChiesa JNambot SNogues CEon-Marchais SStoppa-Lyonnet DBuecher BColas CLimacher JMGauthier-Villars MfalseScreening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes.<h4>Background</h4>Women with a familial predisposition to breast cancer (BC) are offered screening at earlier ages and more frequently than women from the general population.<h4>Methods</h4>We evaluated the effect of screening mammography in 1552 BC cases with a hereditary predisposition to BC unexplained by <i>BRCA1</i> or <i>BRCA2</i> 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 thos2025-01-01T00:00:00Z2025 Mar2025-07-10T03:08:16.367Z2025-07-10T03:08:16.367ZS-EPMC119878044022758810.3390/cancers17071062