408 New sequence variants, recurrent BRCA1/BRCA2 mutations and new aberrations in BRCA1 promoter region in breast and ovarian cancer cases from upper silesia in Poland
β Scribed by J. Pamula; H. Zientek; M. Sieminska; W. Pekala; E. Chmielik; J. Rogozinska-Szczepka; B. Utracka-Hutka; M. Rusin; E. Grzybowska
- Book ID
- 118620582
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 340 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1359-6349
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Sixty high-risk breast and/or ovarian cancer families from North-Eastern Poland were screened for germline mutations in BRCA1 (MIM# 113705) and BRCA2 (MIM# 600185), using a combination of protein truncation test, denaturing high-performance liquid chromatography and direct sequencing. Sixteen (27%)
Germline mutations in the BRCA1 and BRCA2 genes account for the majority of high-risk breast/ovarian cancer families, depending on the population studied. Previously, BRCA1 mutations were described in women from Western Poland. To further characterize the spectrum of BRCA1 mutations and the impact o