Mutatiion Analysis Of Selected Genes in Patients with Breast Cancer

Abstract

newlineBreast cancer is the most common cancer in women across the world. In women, BC is the leading cause of cancer death, followed by colorectal and lung cancer. In India, BC is the first most common cancer among women aged 15-45 years and accounts for 25% of all cancers in women. Mutation in BRCA1/2 and PALB2 gene, which causes high risk in breast cancer cases. The BRCA1 and BRCA2 mutation has been well characterized in Indian population (Heterogeneous studies). Partner and localizer of BRCA2 (PALB2) was initially recognized as a BRCA2 interacting protein which is essential for BRCA2 gene function. This protein aids the BRCA1 and BRCA2 proteins in repairing DNA damages and mutations in PALB2 gene are suggested to promote BC progression as the mutated PALB2 interferes with the functioning of BRCA proteins However, the role of BRCA1 /2 and PALB2 mutations in breast cancer patients in the Madurai population (Homogenous study) remains relatively unknown. We examined BRCA1/2 and PALB2 mutation in early onset, family history, sporadic breast cancer and healthy females belonged to South Indian ethnicity. We have evaluated the BRCA and PALB2 gene mutation in 200 breast cancer cases and 200 healthy Individual. The mutational frequency of analyzed tumor supressor gene from this study revealed the distribution as: BRCA1 (14.5%), BRCA2 (9%) and PALB2 (3.5%) in breast cancer. In our study we have not found any mutations in our healthy sample. We Identified BRCA1/2 mutations in 36.9% in early onset, 28.1% in Family history and 27.7% in sporadic breast cancer. Deleterious mutations was observed in early onset, family history, sporadic were c.68_69delAG, c.1608 del T, c.1027 del A, c.3596 del GAAA, 4184del TCAA, 3667AgtG, K 1183 R and M1652I in BRCA1, 203GgtA, 286GgtC, 3749_50 delAA, 3861_3864del TAAT in BRCA2 gene and c.780delG, c.725delT, c.404CgtT in PALB2 gene. A high degree of penetrance of gene in BRCA/2 and PALB2 mutation was observed in early onset and family history. These mutations are also common enough to make it