Germline mutations in the BRCA2 gene have been shown to be associated with familial female and male breast cancer. Mutations occur throughout the entire coding region of the gene, and there is considerable ethnic and geographical diversity in the deleterious mutations detected in different populatio
A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer
✍ Scribed by Valentina Calò; Valentina Agnese; Grazia Gargano; Simona Corsale; Valter Gregorio; Sandra Cascio; Patrizia Cammareri; Loredana Bruno; Claudia Augello; Arianna Gullo; Pasqua Sandra Sisto; Giuseppe Badalamenti; Maria Rosaria Valerio; Liborio Napoli; Nicola Gebbia; Viviana Bazan; Antonio Russo
- Publisher
- Springer US
- Year
- 2005
- Tongue
- English
- Weight
- 189 KB
- Volume
- 96
- Category
- Article
- ISSN
- 0167-6806
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
In this study we genotyped Turkish breast/ovarian cancer patients for BRCA1/BRCA2 mutations: protein truncation test (PTT) for exon 11 BRCA1 of and, multiplex PCR and denaturing gradient gel electrophoresis (DGGE) for BRCA2, complemented by DNA sequencing. In addition, a modified restriction assay w
Germline mutations in the BRCA1 and BRCA2 genes are responsible for the predisposition and development of familial breast and/or ovarian cancer. Most mutations of BRCA1 and BRCA2 associated with breast and/or ovarian cancer result in truncated proteins. To investigate the presence of BRCA1 and BRCA2