by Mingazheva E.T | Valova Ya.V | Korosteleva A.V. | Harina O.K. | Shaydullina A.D. | Prokofieva D.S |
Andreeva E.A. | Khusnutdinova E.K. | Bashkir State University, Department of Genetics and Fundamental
Medicine, Ufa, Russia | 1 Bashkir State University, Department of Genetics and Fundamental Medicine,
Ufa, Russia 2 Ufa Scientific Research Institute of Occupational Medicine and Human Ecology, Ufa, Russia
| Bashkir State University, Department of Genetics and Fundamental Medicine, Ufa, Russia | Bashkir
State University, Department of Genetics and Fundamental Medicine, Ufa, Russia | Bashkir State
University, Department of Genetics and Fundamental Medicine, Ufa, Russia | Bashkir State University,
Department of Genetics and Fundamental Medicine, Ufa, Russia | Bashkir State University, Department
of Genetics and Fundamental Medicine, Ufa, Russia | Bashkir State University, Department of Genetics
and Fundamental Medicine, Ufa, Russia; The Institute of Biochemistry and Genetics is a separate
structural subdivision of the Federal State Budgetary Scientific Institution of the Ufa Federal Research
Center of the Russian Academy of Sciences, Ufa, Russia.
Motivation and Aim: Ovarian cancer (OC) is one of the most common malignant neoplasms,
the incidence of which has remained consistently high over the past decades. According to
Kaprin et al. (2021), more than 13,000 cases of this pathology are diagnosed annually in
Russia, about 8,000 of which are fatal.
One of the important risk factors for OC is hereditary predisposition. The high risk of this
pathology is primarily associated with mutations in the tumor suppressor genes BRCA1 and
BRCA2.
As a result of previous targeted sequencing of DNA samples from patients with hereditary
ovarian cancer in exon 11 of the BRCA2 gene, we identified the pathogenic variant
c.3751dupA, which leads to a frameshift (p.Thr1251AsnfsTer14).
The aim: to screen the c.3751dupA variant of the BRCA2 gene in a group of OC patients and
individuals in the control group.
Materials and methods. DNA samples isolated from venous blood of patients with hereditary
forms of OC (n = 70), sporadic ovarian cancer (n = 167) and women without cancer at the
time of blood sampling (n = 322) from the Republic of Bashkortostan were used as research
material. Genotyping was performed by high resolution melting curve analysis (HRM).
Results. In our study among patients with OC and the control group, the c.3751dupA/
BRCA2 variant was identified in one patient with a diagnosis of hereditary ovarian cancer
(0.01%). By ethnicity, the carrier of the studied variant is a Tatar. The manifestation of the
disease occurred in postmenopausal women. The carrier of the studied variant by ethnicity
is a Tatar. A patient with this pathogenic variant was diagnosed with stage III
adenocarcinoma.
Conclusion. Thus, our data indicate a low frequency of occurrence of the c.3751dupA/BRCA2 variant in women from the Republic of Bashkortostan.
poster by Valova YA V