Research Areas

Breast and/or ovarian cancers are among the most common cancers in women across the world. About 5-10% of breast cancers and 10-15% of ovarian cancers can be attributed to HBOC. An estimated 1 in 500-1,000 individuals in the general population have a disease-causing BRCA1 or BRCA2 mutation. Other, less common genes have also been associated with an increased risk of developing breast and other cancers, such as TP53, PTEN, CDH1, ATM, CHEK2 or PALB2. Studies on Indian population shows that the incidence of pathogenic gene mutations is higher (~30%) as compared to western population (10-12%) and the healthcare burden of breast and/or ovarian cancers has been steadily rising in Indian population, thus stressing the need for early detection, surveillance, and disease management measures.

Genetic testing of HBOC related genes may confirm diagnosis of breast cancer and can help guide treatment and management decisions. Early diagnosis of HBOC can increase the chances of detecting and localizing the cancer before it spreads. Furthermore, improvements in early detection and treatment of breast cancer have led to longer survival of breast cancer patients. We at GBRC are trying to make a gene panel using which sequencing of BRACA1, BRACA2 and 17 additional genes can be done using NGS technologies for the identification of a disease-causing variants which can help establish a prognosis and identify what therapies are likely to be effective.