Women harboring BRCA1 germline mutations carry an 85% lifetime risk of developing breast cancer and a 63% risk of ovarian cancer. In this first systematic study of familial breast and/or ovarian cancer in Germany we investigated 29 families for germline mutations in the BRCA1 gene. We identified mut
Spanish family study on hereditary breast and/or ovarian cancer: Analysis of the BRCA1 gene
✍ Scribed by Miguel de la Hoya; Pedro Pérez-Segura; Nathalie Van Orsouw; Eduardo Díaz-Rubio; Trinidad Caldés
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- French
- Weight
- 45 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0020-7136
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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
BRCA1 is a tumour suppressor gene located on chromosome band 17q21. It is estimated that mutations in the BRCA1 gene account for approximately 45% of the breast cancer families and almost all of the breast/ovarian cancer families. We have used single strand conformation polymorphism analysis, direct