Article ; Online: Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
2022 Volume 12, Issue 1, Page(s) 802
Abstract: Since the discovery of the breast cancer susceptibility genes, BRCA1 and BRCA2, various other genes conferring an increased risk for breast cancer have been identified. Studies to evaluate sequence variants in cancer predisposition genes among women of ... ...
Abstract | Since the discovery of the breast cancer susceptibility genes, BRCA1 and BRCA2, various other genes conferring an increased risk for breast cancer have been identified. Studies to evaluate sequence variants in cancer predisposition genes among women of African ancestry are limited and mostly focused on BRCA1 and BRCA2. 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 BRCA1 and BRCA2 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 BRCA1, 0.6% in each of BRCA2, ATM, CHEK2 and PALB, none of whom had any family history of breast cancer. The mean age of patients who carried deleterious variant in BRCA1/BRCA2 was 39 years and 8 months compared to 47 years and 3 months among women who carried a deleterious variant in other breast cancer susceptibility genes. |
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MeSH term(s) | Adult ; Age Distribution ; BRCA2 Protein/genetics ; Blacks/genetics ; Breast Neoplasms/genetics ; Cohort Studies ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease/genetics ; Germ-Line Mutation/genetics ; Humans ; Middle Aged ; Risk ; South Africa ; Ubiquitin-Protein Ligases/genetics ; Young Adult |
Chemical Substances | BRCA2 Protein ; BRCA2 protein, human ; BRAP protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27) |
Language | English |
Publishing date | 2022-01-17 |
Publishing country | England |
Document type | Journal Article ; Research Support, Non-U.S. Gov't |
ZDB-ID | 2615211-3 |
ISSN | 2045-2322 ; 2045-2322 |
ISSN (online) | 2045-2322 |
ISSN | 2045-2322 |
DOI | 10.1038/s41598-022-04791-1 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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