Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2
✍ Scribed by Elena Beristain; Berta Ibáñez; Itziar Vergara; Cristina Martínez-Bouzas; Isabel Guerra; Maria Isabel Tejada
- Book ID
- 107683981
- Publisher
- Springer-Verlag
- Year
- 2010
- Tongue
- English
- Weight
- 191 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1868-310X
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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