Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan

About 5-10% of all ovarian cancer cases show familial clustering, and some 15-25% of familial ovarian cancer cases are mediated by high-penetrance mutations in the BRCA1 and BRCA2 genes. Only few other genes have been identified for familial ovarian cancer.We conducted targeted next-generation seque...

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Bibliographic Details
Published in:Journal of ovarian research 2023-04, Vol.16 (1), p.66-66, Article 66
Main Authors: Prokofyeva, D S, Mingazheva, E T, Valova, Ya V, Sakaeva, D D, Faishanova, R R, Nurgalieva, A Kh, Valiev, R R, Bogdanova, N, Dörk, T, Khusnutdinova, E K
Format: Article
Language:English
Subjects:
Bashkiria
BRCA1 protein
BRCA1 Protein - genetics
BRCA2 protein
Breast cancer
Breast Neoplasms - genetics
Brief Communication
Cancer
Cancer patients
Carcinoma, Ovarian Epithelial - genetics
Care and treatment
Cell cycle
Consortia
Female
Gene mutations
Genes
Genes, BRCA2
Genetic aspects
Genetic Predisposition to Disease
Genetic testing
Genomes
Germline mutations
Hereditary ovarian cancer
High-Throughput Nucleotide Sequencing
Humans
Likely pathogenic variants
Mortality
MSH6 protein
Mutation
Next-generation sequencing
Ovarian cancer
Ovarian Neoplasms - genetics
Pathogenic variants
Patients
Target sequencing
Tumors
Citations: Items that this one cites
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Summary:About 5-10% of all ovarian cancer cases show familial clustering, and some 15-25% of familial ovarian cancer cases are mediated by high-penetrance mutations in the BRCA1 and BRCA2 genes. Only few other genes have been identified for familial ovarian cancer.We conducted targeted next-generation sequencing of the protein coding region of 21 candidate genes, including UTR regions, in genomic DNA samples of 48 patients with familial ovarian cancer from the Republic of Bashkortostan. We identified deleterious variants in BRCA1, BRCA2, CHEK2, MSH6 and NBN in a total of 16 patients (33%). The NBN truncating variant, p.W143X, had not previously been reported. Seven patients (15%) were carriers of the c.5266dupC variant in BRCA1, supporting a Russian origin of this founder allele. An additional 15 variants of uncertain clinical significance were observed. We conclude that our gene panel explains about one-third of familial ovarian cancer risk in the Republic of Bashkortostan.
ISSN:1757-2215
1757-2215
DOI:10.1186/s13048-023-01119-z