BACKGROUND: The incidence of @entity0 in India is on the rise and is rapidly becoming the number one @entity5 in females, pushing the cervical @entity5 to the second position. Most of the predisposition to @entity5344 has been attributed to @entity74 in two @entity5 suppressor genes @entity5345 and @entity2674 . 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 @entity5345 ( @entity30070 ) and @entity2674 ( @entity30073 ) genes have been reported to be of high prevalence in different populations. The aim of this study was to estimate the carrier frequency of @entity30070 and @entity30073 mutations in eastern Indian @entity0 @entity1 . MATERIALS AND METHODS: We selected 231 histologically confirmed @entity0 @entity1 from our tertiary @entity5 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 @entity1 (age range: 26-77 years), 130 with a family history and 101 without were screened. The two founder mutations @entity30070 in @entity5345 and @entity30073 in @entity2674 were not found in any of the subjects. This was confirmed by molecular analysis. CONCLUSIONS: Our findings suggest that these @entity5345 mutations may not have a strong recurrent effect on @entity0 among the eastern Indian population. The contribution of these founder mutations to @entity0 incidence is probably low and could be limited to specific subgroups. This may be particularly useful in establishing further pre-screening strategies.

Absence of @entity30070 and XXXX Mutations among Breast Cancer @entity1 of Eastern India.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity0 :: ('MESH:D001943', 'Disease') :: ['breast cancer'] @entity5344 :: ('MESH:D061325', 'Disease') :: ['hereditary breast and ovarian cancer'] @entity30070 :: ('c|DEL|185|AG', 'DNAMutation') :: ['185delAG'] @entity5 :: ('MESH:D009369', 'Disease') :: ['tumor', 'cancer'] @entity5345 :: ('672', 'Gene') :: ['BRCA1', 'BRCA'] @entity2674 :: ('675', 'Gene') :: ['BRCA2'] @entity30073 :: ('c|DEL|6174|T', 'DNAMutation') :: ['6174delT'] @entity74 :: ('MESH:D030342', 'Disease') :: ['inherited defects']
@entity30073 :: (c|DEL|6174|T,DNAMutation) :: ['6174delT']
