{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lim BWX"],"funding":["National Breast Cancer Foundation (NBCF)","Cancer Council Victoria","EPA","National Breast Cancer Foundation","Department of Health | National Health and Medical Research Council (NHMRC)","Department of Health | National Health and Medical Research Council"],"pagination":["10"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8763908"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8(1)"],"pubmed_abstract":["While protein-truncating variants in RAD51C have been shown to predispose to triple-negative (TN) breast cancer (BC) and ovarian cancer, little is known about the pathogenicity of missense (MS) variants. The frequency of rare RAD51C MS variants was assessed in the BEACCON study of 5734 familial BC cases and 14,382 population controls, and findings were integrated with tumour sequencing data from 21 cases carrying a candidate variant. Collectively, a significant enrichment of rare MS variants was detected in cases (MAF < 0.001, OR 1.57, 95% CI 1.00-2.44, p = 0.05), particularly for variants with a REVEL score >0.5 (OR 3.95, 95% CI 1.40-12.01, p = 0.006). Sequencing of 21 tumours from 20 heterozygous and 1 homozygous carriers of nine candidate MS variants identified four cases with biallelic"],"journal":["NPJ breast cancer"],"pubmed_title":["Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer."],"pmcid":["PMC8763908"],"funding_grant_id":["IF-15-004","EP-C-15-004","GNT1041975","IIRS-20-025"],"pubmed_authors":["Rowley SM","McInerny S","Devereux L","Lim BWX","Scott RJ","Zethoven M","Sloan EK","James PA","Thompson ER","Li N","Campbell IG"],"additional_accession":[]},"is_claimable":false,"name":"Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.","description":"While protein-truncating variants in RAD51C have been shown to predispose to triple-negative (TN) breast cancer (BC) and ovarian cancer, little is known about the pathogenicity of missense (MS) variants. The frequency of rare RAD51C MS variants was assessed in the BEACCON study of 5734 familial BC cases and 14,382 population controls, and findings were integrated with tumour sequencing data from 21 cases carrying a candidate variant. Collectively, a significant enrichment of rare MS variants was detected in cases (MAF < 0.001, OR 1.57, 95% CI 1.00-2.44, p = 0.05), particularly for variants with a REVEL score >0.5 (OR 3.95, 95% CI 1.40-12.01, p = 0.006). Sequencing of 21 tumours from 20 heterozygous and 1 homozygous carriers of nine candidate MS variants identified four cases with biallelic","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jan","modification":"2026-03-15T20:39:48.249Z","creation":"2025-08-13T03:06:17.795Z"},"accession":"S-EPMC8763908","cross_references":{"pubmed":["35039523"],"doi":["10.1038/s41523-021-00373-y"]}}