Paper short abstract:

Reported here is a novel genetic mutation in BRCA1 gene among Hindu Bengali patients of West Bengal. The finding is significant for developing population database useful in detection and early prognosis of breast cancer, one of the leading causes of women's death all over the world including India.

Paper long abstract:

Breast cancer is one of the leading causes of women's death all over the world including India. It accounts for 23% of all cancers among women, and is the second most common cancer overall when both sexes are considered together. Though low in prevalence, a high geographical variation is seen in germline mutations of BRCA1 gene, epidemiological studies indicate that BRCA1 mutation carriers have a lifetime risk of breast cancer that is on the order of 60 - 80%. There have been only a few reports from Asia, and none from West Bengal. Interestingly, there is also a significant difference in the incidence of breast cancer between urban and rural population of India and it also varies among various religious groups. These differences in breast cancer incidence in India have been mainly attributed to socio-cultural and environmental factors but no information is available on genetic factors. A total of 110 patients and 122 controls (without any family history of breast cancer) have been analysed for BRCA1 econ 13 by PCR amplification and then by direct sequencing. A novel (Pro1430Ser) variant was identified among 18 patients and 2 controls. Identification of the novel mutation may help in developing a database for a given population, which will be useful in detection and early prognosis of the disease.

ABHISHIKTA GHOSH ROY1, R. ROY2, B. N. SARKAR1 and A. R. BANDOPADHYAY3

1Anthropological Survey of India, Res: 137C, K.P. Mukherjee Road, CMC Housing, Flat - B/12, Kolkata-700008; 2Cancer Centre Welfare Home and Research Institute; 3Department of Anthropology, Calcutta University, India