Abstract

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.

Details

Title
Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan
Author
Prokofyeva, D S; Mingazheva, E T; Valova, Ya V; Sakaeva, D D; Faishanova, R R; A. Kh. Nurgalieva; Valiev, R R; Bogdanova, N; Dörk, T; Khusnutdinova, E K
Pages
1-8
Section
Brief communication
Publication year
2023
Publication date
2023
Publisher
BioMed Central
e-ISSN
17572215
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2803054816
Copyright
© 2023. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.