Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes.

ABSTRACT:

Introduction

Breast cancer (BC) is an important public health problem worldwide. In Brazil, breast cancer is the most frequently diagnosed tumor and the leading cause of cancer death in women. Hereditary cancer represents approximately 5 to 10 % of BC cases. Even outside the hereditary cancer context, the presence of polymorphisms acting as genetic modifiers may contribute to a better or worse prognosis. Not much is known about the hereditary BC epidemiology in Brazil or about the influence of polymorphisms on hereditary predisposition.

Objective

This study examined the role of five different polymorphisms in four groups of women with BC: Group 1: women with a germline mutation in the BRCA1/2 genes; Group 2: women with variants of uncertain significance in BRCA1/2 and Group

SUBMITTER: Fernandes GC 

PROVIDER: S-EPMC4712611 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature