Abstract

ROLE OF BRCA1 AND BRCA2 GENES IN CELLULAR METABOLISM AND BREAST CANCER

Rajasekhar Pinnamaneni* and K. Subba Rao

ABSTRACT

BRCA1 and BRCA2 are tumour suppressor genes, their mutations may lead to breast and ovarian cancers. It was shown that BRCA proteins are involved in a multitude of pivotal cellular processes. Both genes contribute to DNA repair and transcriptional regulation in response to DNA damage. BRCA proteins are required for maintenance of chromosomal stability, thereby protecting the genome from damage. The reasons why mutations in BRCA genes lead to the development of breast and ovarian cancers are not clearly understood. Genetic testing for BRCA mutations is expanding in clinical oncology centres worldwide. Testing may help target unaffected high-risk women for prevention and/or close surveillance and may also help affected women choose the best chemotherapy. It is important to have an understanding of the pathologic features and the natural history of BRCA-associated breast cancers in order that personalized treatments can be developed and delivered. The goals of treatment for a woman with a BRCA-associated breast cancer should be to prevent recurrence of the initial cancer and to prevent second primary breast and ovarian cancers. Women with breast cancer and a BRCA1 mutation may benefit from tailored treatments. Mutations in BRCA1 are distributed in populations throughout the world.

Keywords: BRCA1; BRCA2; Mutation, Breast Cancer.