title: BRCA1 and BRCA2 in Indian breast cancer patients.
abstract: Incidence of breast cancer in Indian women is not as high as in Western countries, nonetheless age-adjusted incidence rates (AAR) have risen from 17.9 to 24.9 per 100,000 from 1965 to 1985. Although these rates are still approximately one quarter to one third of incidence rates in North America and Europe, respectively, due to the large population of women at risk, nearly 80,000 new cases were diagnosed in India in 2000. Although identification of BRCA1 and BRCA2 has greatly increased our understanding of breast cancer genetics in populations of Western European descent, the role of these genes in Indian populations remains unexplored. Analysis of a series of 20 breast cancer patients from North India with either family history of breast and/or ovarian cancer (2 or more affected first degree relatives) or early age of onset (<35 years) led to identification of two novel splice variants (331+1G>T; 4476+2T>C) in BRCA1 (10%). In addition, two BRCA2 missense variants were each identified in more than one patient (two unrelated individuals each) and likely represent population-specific polymorphisms.
authors.affiliation: Institute of Pathology, Safdarjang Hospital Campus, New Delhi, India. sunita_saxena@yahoo.com
authors.forename: Sunita
authors.initials: S
authors.lastname: Saxena
authors.forename: Csilla I
authors.initials: CI
authors.lastname: Szabo
authors.forename: Sandrine
authors.initials: S
authors.lastname: Chopin
authors.forename: Laure
authors.initials: L
authors.lastname: Barjhoux
authors.forename: Olga
authors.initials: O
authors.lastname: Sinilnikova
authors.forename: Gilbert
authors.initials: G
authors.lastname: Lenoir
authors.forename: David E
authors.initials: DE
authors.lastname: Goldgar
authors.forename: Dinesh
authors.initials: D
authors.lastname: Bhatanager
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D004273:DNA, Neoplasm