The presence of hereditary BRCA1 gene mutations in women with familial breast cancer or familial ovarian cancer and the frequency of the occurrence of these tumours in their relatives
β Scribed by E Skasko; Z Paszko; A Niwinska; E Kwiatkowska; A Kruczek; T Pienkowski; A Wisniewska; B Konopka; A Kluska
- Book ID
- 118622284
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 151 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1359-6349
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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
Germline mutations in BRCA1 and BRCA2 account for majority of hereditary breast and ovarian cancer. The complete coding sequence analysis of both genes was carried out in 197 breast/ovarian cancer patients from high-risk families and 53 patients with sporadic breast/ovarian cancer. In summary, 59 mu
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