{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["17(7)"],"submitter":["Ribeiro-Guerra M"],"pubmed_abstract":["<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 thos"],"journal":["Cancers"],"pagination":["1062"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11987804"],"repository":["biostudies-literature"],"pubmed_title":["Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes."],"pmcid":["PMC11987804"],"pubmed_authors":["Caron O","Giraud S","Cavaciuti E","Longy M","Dondon MG","Lortholary A","Lesueur F","Cavaille M","Beauvallet J","Fajac A","Mortemousque I","Le Gal D","Lasset C","Audebert-Bellanger S","Pujol P","Venat-Bouvet L","Mebirouk N","Lejeune-Dumoulin S","Soubrier F","Maugard CM","Fricker JP","Bonadona V","Gladieff L","Andrieu N","Dreyfus H","Fert-Ferrer S","Ribeiro-Guerra M","Berthet P","Luporsi E","Coupier I","Tinat J","Delnatte C","Gesta P","Adenis-Lavignasse C","Belotti M","Tardivon A","Chiesa J","Nambot S","Nogues C","Eon-Marchais S","Stoppa-Lyonnet D","Buecher B","Colas C","Limacher JM","Gauthier-Villars M"],"additional_accession":[]},"is_claimable":false,"name":"Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes.","description":"<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 thos","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2025-07-10T03:08:16.367Z","creation":"2025-07-10T03:08:16.367Z"},"accession":"S-EPMC11987804","cross_references":{"pubmed":["40227588"],"doi":["10.3390/cancers17071062"]}}