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
Prevalence of BRCA1 and BRCA2 genomic rearrangements in a cohort of consecutive Italian breast and/or ovarian cancer families
โ Scribed by Amelia Buffone; Carlo Capalbo; Enrico Ricevuto; Tina Sidoni; Laura Ottini; Mario Falchetti; Enrico Cortesi; Paolo Marchetti; Giovanni Scambia; Silverio Tomao; Christian Rinaldi; Massimo Zani; Sergio Ferraro; Luigi Frati; Isabella Screpanti; Alberto Gulino; Giuseppe Giannini
- Publisher
- Springer US
- Year
- 2007
- Tongue
- English
- Weight
- 209 KB
- Volume
- 106
- Category
- Article
- ISSN
- 0167-6806
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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
## Abstract Among Asian countries, Pakistan has the highest rates of breast and ovarian cancer. To assess the contribution of the __BRCA1__ and __BRCA2__ germ line mutations to these high rates, we conducted the first study of 176 Pakistani breast and ovarian cancer patients, selected on family his
We have investigated the impact of BRACA1 and BRACA2 mutations that were frequently identified among Hungarian high-risk breast-ovarian cancer families (Ramus et al., 1997b, AJHG), on the development of breast and ovarian cancer in the general Hungarian population. The prevalence of 3 BRCA1 mutation