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
Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany
β Scribed by Marion Kiechle; Eva Gross; Ulrike Schwarz-Boeger; Jacobus Pfisterer; Walter Jonat; Wolf-Dieter Gerber; Birgit Albacht; Barbara Fischer; Brigitte Schlegelberger; Norbert Arnold
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 14 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1059-7794
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We identified 17 BRCA1 mutations in 86 Austrian breast and ovarian cancer families (20%) that were screened for mutations by denaturing high-performance liquid chromatography (DHPLC) and the protein truncation test (PTT). Eleven distinct mutations were detected, 4 of them (962del4, 2795del4, 3135del
A group of 83 Spanish BC/OC families were analysed for BRCA1 germ-line mutations. Analysis of the entire coding sequence was carried out by SSCP and PTT. We identified 5 frameshift mutations: 185delAG (2 times), 189insTGTC, 1241delAC, and 5537delA and 3 missense mutations in BRCA1: 330A G G, 1240C G