title: Absence of 185delAG and 6174delT Mutations among Breast Cancer Patients of Eastern India.
abstract: BACKGROUND
  The incidence of breast cancer in India is on the rise and is rapidly becoming the number one cancer in females, pushing the cervical cancer to the second position. Most of the predisposition to hereditary breast and ovarian cancer has been attributed to inherited defects in two tumor suppressor genes BRCA1 and BRCA2. Alterations in these genes have been reported in different populations, some of which are population- specific mutations showing founder effects. Two specific mutations in the BRCA1 (185delAG) and BRCA2 (6174delT) genes have been reported to be of high prevalence in different populations. The aim of this study was to estimate the carrier frequency of 185delAG and 6174delT mutations in eastern Indian breast cancer patients.
  
  
  METHODS
  We selected 231 histologically confirmed breast cancer patients from our tertiary cancer care center in eastern India. Family history was obtained by interview or a self-reported questionnaire. The presence of the mutation was investigated by allele specific duplex/multiplex-PCR on genomic DNA extracted from peripheral blood.
  
  
  RESULTS
  A total of 231 patients (age range: 26-77 years), 130 with a family history and 101 without were screened. The two founder mutations 185delAG in BRCA1 and 6174delT in BRCA2 were not found in any of the subjects. This was confirmed by molecular analysis.
  
  
  CONCLUSIONS
  Our findings suggest that these BRCA mutations may not have a strong recurrent effect on breast cancer among the eastern Indian population. The contribution of these founder mutations to breast cancer incidence is probably low and could be limited to specific subgroups. This may be particularly useful in establishing further pre-screening strategies.
authors.affiliation: Dept. of Molecular Biology, Netaji Subhas Chandra Bose Cancer Research Institute, Kolkata, India E-mail : ncri.molecularbiology@gmail.com; abhijit.drems@gmail.com.
authors.forename: Abhijit
authors.initials: A
authors.lastname: Chakraborty
authors.forename: Debolina
authors.initials: D
authors.lastname: Banerjee
authors.forename: Jayasri
authors.initials: J
authors.lastname: Basak
authors.forename: Ashis
authors.initials: A
authors.lastname: Mukhopadhyay
mesh_terms: D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007194:India / Q000453:epidemiology; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics; D011795:Surveys and Questionnaires
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human