Abstract:
:In this study we aim to determine the prevalence of the recently identified pathogenic BRCA1 variant c.-107A > T in the south-east German population. This variant causes the epigenetic silencing of the BRCA1 promotor and has been detected in two independent families from the UK without a germline BRCA1 or BRCA2 pathogenic variant. A total of 3297 individuals with suspicion of hereditary breast and ovarian cancer and fulfilling the clinical criteria necessary for genetic testing in Germany were analyzed for presence of the variant by a Kompetitive Allele-Specific PCR (KASP) assay or direct Sanger sequencing. Since we did not detect an individual carrying the variant we conclude that BRCA1 c.-107A > T is not a common variant in the south-east German population.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Laner A,Benet-Pages A,Neitzel B,Holinski-Feder Edoi
10.1007/s10689-020-00175-4subject
Has Abstractpub_date
2020-07-01 00:00:00pages
211-213issue
3eissn
1389-9600issn
1573-7292pii
10.1007/s10689-020-00175-4journal_volume
19pub_type
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