The Role of PALB2 Mutations in the Development of Breast Cancer

Methods: we used PubMed and science direct database. The key words used are as follows: Hereditary breast cancer, BRCA1, BRCA2, PALB2, DNA damage, susceptibility, DNA repair, mutation, cancer risk. In this article we evaluated genes that have a major role in development of BC. Results: Loss-of-function mutations in PALB2 increase risk of BC. Recent data showing that cancer risks for PALB2 mutations is the same as BRCA2. Other studies suggest that PALB2 c.1676A > G, c.2993C > T, PALB2 c.2323C> T p.Q775X, c.2411_2412delCT and c.2053delC play important roles in BC risk in women with a strong family history of BC. BC risk for women with PALB2 mutations as compared with the general population, have been reported to be between eight to nine times as high among those younger than 40 years, six to eight for 40 to 60 years, and five times as highfor older than 60 years. Conclusions: Mutations in PALB2 is a high risk in individuals for developing FBC. Penetrance estimation is 2- to 6-fold increased risk for BC. Screening for PALB2 mutations should be a routine part of the genetic counseling protocol for individuals with high-risk BC cases who are BRCA1/BRCA2 negative.

کلیدواژه ها:

Hereditary breast cancer ، predisposition ، PALB2 ، mutation