Case report: Analysis of BRCA1 and BRCA2 gene mutations in a hereditary ovarian cancer family.

ABSTRACT:

Objective

Breast cancer susceptibility gene 1/2 (BRCA1/2) is the most important susceptibility gene associated with hereditary ovarian cancer (HOC). We aimed to screen BRAC1 and BRAC2 gene mutations in a member of a hereditary ovarian cancer family in China, and to analyze the structure and function of the mutant protein.

Methods

A typical HOC family was selected. Blood samples and pathological tissue samples were taken from the female members of the family. Blood samples from two patients with sporadic ovaries of the same pathological type were taken as a control group. After RNA extraction, PCR amplification was applied and the PCR products were directly sequenced and aligned, prediction and analysis of protein structure and molecular conformation that may be caused by BRC

SUBMITTER: Liao Y 

PROVIDER: S-EPMC7311593 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature