title: Novel germline mutations in BRCA2 gene among 96 hereditary breast and breast-ovarian cancer families from Kerala, South India.
abstract: OBJECTIVE
  Aim of the present study was to identify the genetic heterogeneity, prevalence and frequency of germline mutations of BRCA2 gene in Hereditary Breast/Ovarian cancer patients from Kerala, South India.
  
  
  METHODS
  We analyzed 102 Breast/Ovarian cancer patients from 96 breast and/ovarian cancer families for BRCA2 gene mutations using Conformation-Sensitive Gel Electrophoresis (CSGE) followed by sequencing.
  
  
  RESULTS
  Sequence variations in BRCA2 gene were detected in 27 (26.4%) patients. Sixteen distinct sequence variants were detected of which 11 were (69%) in exon 11. We have identified two novel disease-causing frameshift mutations (c.4642delAA and c.4926insGACC) in two unrelated patients. Apart from this, fourteen distinct sequence variants were detected in 25 breast/ovarian cancer patients of which 8 (57%) were also novel. These include nine missense mutations, one silent mutation, one-nonsense mutation and three intronic variants.
  
  
  CONCLUSIONS
  The results of this study suggest that germline mutations of BRCA2 gene account for rather small proportion of Hereditary Breast/Ovarian cancer in Kerala, South India.
authors.affiliation: Division of Cancer Research, Regional Cancer Centre, Thiruvananthapuram, Kerala, 695011, India. vaniskurup@rediffmail.com
authors.forename: Vani
authors.initials: V
authors.lastname: Syamala
authors.forename: Leelakumari
authors.initials: L
authors.lastname: Sreeja
authors.forename: Volga S
authors.initials: VS
authors.lastname: Syamala
authors.forename: B
authors.initials: B
authors.lastname: Vinodkumar
authors.forename: Praveenkumar B
authors.initials: PB
authors.lastname: Raveendran
authors.forename: Hariharan
authors.initials: H
authors.lastname: Sreedharan
authors.forename: Ratheesan
authors.initials: R
authors.lastname: Kuttappan
authors.forename: Lekshmi
authors.initials: L
authors.lastname: Balakrishnan
authors.forename: Ravindran
authors.initials: R
authors.lastname: Ankathil
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010051:Ovarian Neoplasms / Q000235:genetics*; D015995:Prevalence