PALB2 gene in breast cancer

Abstract

Breast cancer represents the most commonly encountered form of malignant disease in women worldwide, which has been widely demonstrated to have a strong genetic predisposition. Therefore, it seems that most often it is inherited in an autosomal dominant manner, the most commonly encountered germline gene variant being represented by BRCA 1 and BRCA 2, followed by TP53, CDH1, PTEN and STK1. Recently PALB2 gene has been demonstrated to confer a moderate risk for breast cancer development. In this article the importance and the prevalence of the PALB2 gene is presented as well as the breast cancer risk is analyzed (based on various studies). To better manage and understand the risks we have detailed the newest monitoring and treatment options regarding a mutation in the PALB2 gene that leads to breast cancer.