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Indian Breast Cancer Patients Carry Germline Risk Variants
A study by IIT Madras reported that nearly one in four Indian breast cancer patients carries inherited genetic risk variants. The findings indicate that most genetic risk occurs in genes beyond the well known BRCA1 and BRCA2 genes.
Breast Cancer and Genetic Risk Factors:
| Dimension | Key Details |
|---|---|
| Cancer | Disease caused by uncontrolled cell division resulting from genetic mutations that disrupt normal growth regulating genes. |
| Types of Mutations | Includes somatic mutations acquired during lifetime and germline mutations inherited and present in all cells. |
| Breast Cancer | Condition in which abnormal cells in the breast grow uncontrollably. |
| Incidence in India | India records about 1.9 lakh new breast cancer cases annually. |
| Inherited Genetic Link | More than 10 % of breast cancer cases are linked to inherited germline mutations. |
| Common Types | Includes Invasive Ductal Carcinoma and Invasive Lobular Carcinoma along with Ductal Carcinoma in Situ. |
| Key Symptoms | Includes lump in breast or armpit skin dimpling and nipple discharge. |
| BRCA Genes | BRCA1 and BRCA2 provide repair of damaged DNA through homologous recombination repair pathway. |
| Other DNA Repair Genes | Includes ATM PALB2 and CHEK2 genes involved in repairing damaged DNA. |
| Tumour Suppressor Genes | Includes MLH1 NF1 TP53 and RB1 genes which regulate cell growth repair DNA errors and remove damaged cells. |
| Treatment Methods | Includes surgery radiation therapy chemotherapy hormone therapy and targeted therapy such as HER2 inhibitors. |
| Inherited Risk Study Finding | Study found 24.6% of patients carried inherited genetic variants increasing cancer risk. |
| BRCA Mutation Share | Mutations in BRCA1 and BRCA2 were found in 8.35 percent of patients. |
| Non BRCA Gene Variants | Commonly affected genes include MLH1 NF1 TP53 and RB1. |
| DNA Repair Pathway | Many mutations identified in genes involved in homologous recombination repair pathway. |
| Unique Variants in Study | Identified 31 homologous recombination repair variants and 41 other variants absent in global databases but present in Indian patients. |
| RECQL Gene | Variants in RECQL gene were detected in 1.7% of patients and showed higher frequency in South Asian populations. |
| Bharat Cancer Genome Atlas | Open access database led by IIT Madras that maps genetic patterns of cancers in Indians to support precision medicine. |