The presence of genomic rearrangements of the BRCA1 gene in breast and/or ovarian cancer families has been intensively investigated in patients from various countries over the last years. A number of different rearrangements have been reported by several studies that clearly document the involvement
Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families
✍ Scribed by Gad, Sophie; Caux-Moncoutier, Virginie; Pagès-Berhouet, Sabine; Gauthier-Villars, Marion; Coupier, Isabelle; Pujol, Pascal; Frénay, Marc; Gilbert, Brigitte; Maugard, Christine; Bignon, Yves-Jean
- Book ID
- 110066854
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 340 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0950-9232
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## Abstract In 1998, we reported that a significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor specific germline mutations in __BRCA1__ or __BRCA2__ attributed to common founders. Here we report the frequency of previously described mutations (__n__ = 7) a
Since the identification of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2, a large number of different germline mutations in both genes have been found by conventional PCR-based mutation detection methods. Complex germline rearrangements such as those reported in the BRCA1 gene
The two major hereditary breast/ovarian cancer predisposition tumor suppressor genes, BRCA1 and BRCA2 that perform apparently generic cellular functions nonetheless cause tissue-specific syndromes in the human population when they are altered, or mutated in the germline. However, little is known abo