Breast cancer is the most common cancer in women all over the world and mutations in the BRCA1 and BRCA2 genes are most commonly associated with predisposition to hereditary breast and/or ovarian cancer syndrome. In India, it is the most common cancer in women as well as the commonest cause of death in women with cancer.
Detecting mutation in germ cells of breast or ovarian cancer patients has profound implications for the patient as well as the unaffected relatives in the current era. It improves the understanding of the risk of future metachronous cancers in the patients which can be prevented by employing appropriate surgical or non-surgical measures.
Awareness regarding genetic basis of cancer is extremely low and there is no established database of such cancers. Furthermore,
considering a relatively younger median age at diagnosis, criteria for genetic testing maybe slightly different in Indian population compared to what is internationally accepted.
Through this project, the researchers plan to establish a genetic cancer registry at AIIMS, Delhi and help establish a set of criteria for genetic testing in Indian breast cancer patients.
This study is expected to provide data on genetic mutation pattern in breast cancer patients in north Indian population. A QOL (quality of life) and anxiety assessment as part of this study will help assess the impact of genetic testing on the life of patients and their families.