Work

Генотип-фенотипические корреляции у больных раком молочной железы с мутациями BRCA1 (4153delA, 185delAG, 5382insC)

Year: 2014

Type: article

Abstract: Hereditary breast cancer (BC) associated with BRCA1 mutations is characterized by a number of features as compared to sporadic and BRCA2- associated BC. Structural and functional changes in mutant proteins in accordance with the type and locus of BRCA1 mutations determine different variants of a BC phenotype. Identification of genotype-phenotype correlations in patients with hereditary BC makes it possible to single out its basic characteristics, to personalize its diagnosis and treatment, to estimate the prognosis and risk of multiple primary tumors in accordance with BRCA1 mutations (4153delA, 185delAG, 5382insC).

Source: DOAJ (DOAJ: Directory of Open Access Journals)

DOI: 10.17650/1994-4098-2014-0-2-8-11

Authors: M. Bit-Sava, N. Imyanitov

Institutions: Saint Petersburg State Pediatric Medical University, Institute of Oncology NN Petrov

Language: Russian

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2265656054

FWCI:

Cites: 7

Cited by: 1

Related to: 10