Research of histological characteristics and single nucleotide polymorphisms in hereditary genes among Pakistani breast cancer patients

Abstract

Abstract Cancer is a type which involves irregular progression of cells with the capacity to enter and move to other portions of body. Breast cancer starts from breast tissues, mostly from inner coating of milk ducts. It is categorized into various methods by, grade, stage and receptors status. It is very common in females worldwide. Whole-exome sequencing (WES) was done in DNA removed from tumors of six breast cancer patients from Jinnah hospital Lahore, Pakistan. There were 19 patients from age 27 to 73 from which tissue sample were collected from 6 patients. The age distribution shows non-significant differences. The ER/PR status shows non-significant differences and odds ratio equals to 1. Somatic mutations were detected in three targeted genes ATM, TP53 and CDH (CDH5, CDH8, CDH10, CDH12, CDH16, CDH20, CDH23 and CDH24) in sample 1. Two genes with exonic variants were found in sample 2 containing TP53 and CDH (CDH5, CDH16, CDH19, and CDH23). Amino acid change and deletions were observed in different exonic sites of these genes. To conclude, more number of patients was observed having invasive ductal breast carcinoma. A number of novel somatic mutations for breast cancer were recognized. More studies are needed to define the functions of these mutated genes in breast cancer. Whole exome sequencing shows different type of mutations in different exonic regions of genes including TP53, ATM and CDH.