Analysis of genetic and epigenetic alterations in breast carcinomas

Cancer is a group of diseases in which cells in the body grow, change and multiply out of control. Usually, cancer is named after the body part in which it originated; thus, breast cancer refers to the erratic growth and proliferation of cells that originate in the breast tissue. Breast cancer is a complex, multifactorial disease where there is a strong interplay between genetic and environmental factors. Comparative genomic hybridization studies on primary BC and BC cell lines describe a complex pattern of DNA gains and losses in the tumor compared with normal tissue. Among these deleted regions we have focused on chr.11q24.2 region To understand the importance of frequent deletions at chromosome 11q24.2 region in breast carcinoma, alterations (deletion/methylation) of the candidate genes PIG8 and CHEK1 located in this region were analyzed in breast carcinoma samples. Among these genes, PIG8 (35%), CHEK1 (31%). Comparable frequency of promoter methylation (26-35%) was observed for CHEK1 and PIG8. Overall alterations (deletion/methylation) of these genes were in the following order: PIG8 (46%) < CHEK1 (41%) and showed significant association with each other.