The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

ABSTRACT:

Background

the BRCA1 and BRCA2 mutation spectrum and mutation detection rates according to different family histories were investigated in 521 subjects from 322 unrelated Slovenian cancer families with breast and/or ovarian cancer.

Methods

the BRCA1 and BRCA2 genes were screened using DGGE, PTT, HRM, MLPA and direct sequencing.

Results

eighteen different mutations were found in BRCA1 and 13 in BRCA2 gene. Mutations in one or other gene were found in 96 unrelated families. The mutation detection rates were the highest in the families with at least one breast and at least one ovarian cancer - 42% for BRCA1 and 8% for BRCA2. The mutation detection rate observed in the families with at least two breast cancers with disease onset before the age of 50 years and no ovarian c

SUBMITTER: Stegel V 

PROVIDER: S-EPMC3025939 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature