449 BRCA1 gene mutation carrier analysis in familial breast cancer patients
β Scribed by M.A. Caligo; C. Ghimenti; S. Ricci; A. Antonuzzo; V. Marchetti; G. Allegrini; G. Cipollini; M.P. Maresi; R. Olsen; M. McClure; C. Frye; D. Shattuck-Eidens; S. Neuhausen; M. Skolnick; P.F. Conte; G. Bevilacqua
- Book ID
- 116167202
- Publisher
- Elsevier Science
- Year
- 1995
- Tongue
- English
- Weight
- 304 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0959-8049
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Family history is a well-recognized risk factor for the development of breast cancer. The isolation of BRCA1 and BRCA2 genes, the two major predisposing genes in familial and to early onset breast and ovarian cancer, has resulted to the identification of a large number of families with mutations in
We analyzed germline mutations of the BRCAl gene in 20 German breast/ovarian-cancer families. BRCA I mutations cosegregating with breast-cancer susceptibility were identified in 3 of these families. All mutations were found to generate a premature stop codon leading to the synthesis of truncated BRC