by Mingazheva E.T | Valova Ya.V | Korosteleva A.V. | Harina O.K. | Shaydullina A.D. | Prokofieva D.S |
\nAndreeva E.A. | Khusnutdinova E.K. | Bashkir State University, Department of Genetics and Fundamental
\nMedicine, Ufa, Russia | 1 Bashkir State University, Department of Genetics and Fundamental Medicine,
\nUfa, Russia 2 Ufa Scientific Research Institute of Occupational Medicine and Human Ecology, Ufa, Russia
\n| Bashkir State University, Department of Genetics and Fundamental Medicine, Ufa, Russia | Bashkir
\nState University, Department of Genetics and Fundamental Medicine, Ufa, Russia | Bashkir State
\nUniversity, Department of Genetics and Fundamental Medicine, Ufa, Russia | Bashkir State University,
\nDepartment of Genetics and Fundamental Medicine, Ufa, Russia | Bashkir State University, Department
\nof Genetics and Fundamental Medicine, Ufa, Russia | Bashkir State University, Department of Genetics
\nand Fundamental Medicine, Ufa, Russia; The Institute of Biochemistry and Genetics is a separate
\nstructural subdivision of the Federal State Budgetary Scientific Institution of the Ufa Federal Research
\nCenter of the Russian Academy of Sciences, Ufa, Russia.<\/p>\n
Motivation and Aim: Ovarian cancer (OC) is one of the most common malignant neoplasms,
\nthe incidence of which has remained consistently high over the past decades. According to
\nKaprin et al. (2021), more than 13,000 cases of this pathology are diagnosed annually in
\nRussia, about 8,000 of which are fatal.
\nOne of the important risk factors for OC is hereditary predisposition. The high risk of this
\npathology is primarily associated with mutations in the tumor suppressor genes BRCA1 and
\nBRCA2.
\nAs a result of previous targeted sequencing of DNA samples from patients with hereditary
\novarian cancer in exon 11 of the BRCA2 gene, we identified the pathogenic variant
\nc.3751dupA, which leads to a frameshift (p.Thr1251AsnfsTer14).
\nThe aim: to screen the c.3751dupA variant of the BRCA2 gene in a group of OC patients and
\nindividuals in the control group.
\nMaterials and methods. DNA samples isolated from venous blood of patients with hereditary
\nforms of OC (n = 70), sporadic ovarian cancer (n = 167) and women without cancer at the
\ntime of blood sampling (n = 322) from the Republic of Bashkortostan were used as research
\nmaterial. Genotyping was performed by high resolution melting curve analysis (HRM).
\nResults. In our study among patients with OC and the control group, the c.3751dupA\/
\nBRCA2 variant was identified in one patient with a diagnosis of hereditary ovarian cancer
\n(0.01%). By ethnicity, the carrier of the studied variant is a Tatar. The manifestation of the
\ndisease occurred in postmenopausal women. The carrier of the studied variant by ethnicity
\nis a Tatar. A patient with this pathogenic variant was diagnosed with stage III
\nadenocarcinoma.
\nConclusion. Thus, our data indicate a low frequency of occurrence of the c.3751dupA\/BRCA2 variant in women from the Republic of Bashkortostan.<\/p>\n