УДК 616-006.66:618.11-006.6:575.113:575.224.2
A.I. Khasanova1,2, M.G. Gordiev1,2, E.Yu. Ratner¹, V.V. Zhavoronkov1,2, R.Sh. Khasanov1,2, A.G. Nikitin4
1Tatarstan Cancer Center, Kazan
2Volga Region branch of N.N. Blokhin Russian Cancer Research Center, Kazan
3Kazan State Medical Academy, Kazan
4Federal Scientific Clinical Center of Specialized Types of Medical Care and Medical Technologies FMBA of Russia, Moscow
Khasanova A.I. ― Cand. Med. Sc., oncologist of the Tatarstan Cancer Center
29 Sibirskiy Trakt, Kazan, Russian Federation, 420029, tel. (843) 525-73-97, e-mail: haalfy@gmail.com
Abstract. During medical and genetic counseling of representative of the tatar nationality group with anamnesis of breast cancer and ovarian cancer, as well as a family history of cancer in exon 10 of BRCA1 gene was detected nucleotide substitution s.915T>A in heterozygous state. With direct sequencing method were automatically analyzed exons 2, 4, 5, 10, 12-17 and adjacent intronic regions of BRCA1 gene. This replacement is not described in the databases BRCA Share, Breast Cancer Information Core database, LOVD, HGMD Professional and can be classified as previously not published disease-causing mutation leading to premature termination of translation.
Key words: breast cancer, ovarian cancer, mutations and polymorphisms of BRCA1/2 gene, ethnogeographical features of distribution, tatar population.