Neoplasma Vol.53, p.97-102, 2006
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| Title: Ashkenazi founder BRCA1/BRCA2 mutations in Slovak hereditary
breast and/or ovarian cancer families
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| Author: S., CIERNIKOVA
; M., TOMKA
; M., KOVAC
; V., STEVURKOVA
; V., ZAJAC
; |
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Abstract: Germline mutations in BRCA1 and BRCA2 have been predominantly
associated with the breast and ovarian cancers. Two
mutations in BRCA1 (185delAG and 5382insC) and one mutation in
BRCA2 (6174delT) are common in Ashkenazi Jewish
population. To determine the proportion of these founder
mutations, we analyzed DNA samples of 120 Slovak hereditary
breast and/or ovarian cancer (HBOC) suspected families. Two
particular exons of BRCA1 (2, 20) and 11N segment of
BRCA2 were screened by single strand conformation polymorphism
(SSCP) followed by DNA sequencing of fragments
showing abnormal migration pattern. Mutational analysis revealed
that 7 out of 20 (35%) families with detected
BRCA1/BRCA2 pathogenic alteration harbored one of three Jewish
mutations: five families with 5382insC, one family with
185delAG and one family with 6174delT. Interestingly, we have
noted a very rare phenotype, when 5382insC in BRCA1
co-segregated also with endometrial carcinoma. Similarly to the
studies from other countries of Central and Eastern Europe,
the most frequent pathogenic alteration found was 5382insC that
accounted for 1/4 of all gene defects detected. Following
the high proportion of Ashkenazi Jewish founder mutations in
Slovak HBOC families, a pre-screening for at least 5382insC
mutation in individuals at even moderate risk would be appropriate.
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| Keywords: breast and ovarian cancer, BRCA1, BRCA2, Ashkenazi Jewish founder
mutations, Slovak HBOC families
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| Year: 2006, Volume: 53, Issue: |
Page From: 97, Page To: 102 |
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