BRCA1mutation analysis in breast and ovarian cancer families from Greece
✍ Scribed by I Konstantopoulou, C Croupis, A Ladopoulou, A Pantazidis, E Lianidou…
- Book ID
- 120701338
- Publisher
- BioMed Central
- Year
- 2000
- Tongue
- English
- Weight
- 298 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1465-5411
- DOI
- 10.1186/bcr97
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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%)
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