Novel PALB2 deleterious mutations in breast cancer patients from South Indian population

Breast cancer is the most common cancer in women across the world. Partner and localizer of BRCA2 (PALB2) were recently identified as a breast cancer predisposition gene. The ultimate goal of this study is to understand the status of PALB2 mutations among the breast cancer subjects from the Indian population. We have evaluated the PALB2 gene mutation in 200 breast cancer patients and 200 controls that tested negative for BRCA1/2. Single Stranded Conformation Polymorphism (SSCP) assay was performed for screening the variants on amplified regions followed by direct sequencing for conforming mutations. Among the analyzed subjects, 128 patients were of inherited familial history and the rest 72 patients were of sporadic cases. Two novel deleterious mutations and one novel missense mutation were identified from this study, with the prevalence of about 3.5% (7/200). Among the deleterious mutations in familial breast cancer, PALB2 c.780delG and c.725delT was identified. One missense mutation of PALB2 c.404C > T was found in our study subjects. In this study, the prevalence of PALB2 gene mutation in familial breast cancer is about 4.6% (6/128). Our study demonstrates that the PALB2 gene mutations prevail among familial breast cancer patients.Clinically, these data may be helpful in the genetic counseling for breast cancer patients with PALB2 germline mutation.