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Studies to evaluate sequence variants in cancer predisposition genes among women of African ancestry are limited and mostly focused on\n                    <jats:italic>BRCA1<\/jats:italic>\n                    and\n                    <jats:italic>BRCA2<\/jats:italic>\n                    . To characterize germline sequence variants in cancer susceptibility genes, we analysed a cohort of 165 South African women of self-identified African ancestry diagnosed with breast cancer, who were unselected for family history of cancer. With the exception of four cases, all others were previously investigated for\n                    <jats:italic>BRCA1<\/jats:italic>\n                    and\n                    <jats:italic>BRCA2<\/jats:italic>\n                    deleterious variants, and were negative for pathogenic variants. We utilized the Illumina TruSight cancer panel for targeted sequencing of 94 cancer susceptibility genes. A total of 3.6% of patients carried a pathogenic\/likely pathogenic variant in a known breast cancer susceptibility gene: 1.2% in\n                    <jats:italic>BRCA1<\/jats:italic>\n                    , 0.6% in each of\n                    <jats:italic>BRCA2<\/jats:italic>\n                    ,\n                    <jats:italic>ATM, CHEK2<\/jats:italic>\n                    and\n                    <jats:italic>PALB,<\/jats:italic>\n                    none of whom had any family history of breast cancer. The mean age of patients who carried deleterious variant in\n                    <jats:italic>BRCA1\/BRCA2<\/jats:italic>\n                    was 39\u00a0years and 8\u00a0months compared to 47\u00a0years and 3\u00a0months among women who carried a deleterious variant in other breast cancer susceptibility genes.\n                  <\/jats:p>","DOI":"10.1038\/s41598-022-04791-1","type":"journal-article","created":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T06:03:22Z","timestamp":1642399402000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry"],"prefix":"10.1038","volume":"12","author":[{"given":"Dewald","family":"Eygelaar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth J.","family":"van Rensburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fourie","family":"Joubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,17]]},"reference":[{"key":"4791_CR1","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1126\/science.aay4743","volume":"367","author":"TR Rebbeck","year":"2020","unstructured":"Rebbeck, T. 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