PARP inhibition in BRCA-mutated breast and ovarian cancers
β Scribed by Stephen L Chan; Tony Mok
- Book ID
- 117307041
- Publisher
- The Lancet
- Year
- 2010
- Tongue
- English
- Weight
- 336 KB
- Volume
- 376
- Category
- Article
- ISSN
- 0140-6736
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We report on the screening of the entire BRCA1/BRCA2 coding sequence by SSCP, PTT, and direct sequencing in 68 Italian families with recurrent breast or ovarian cancer. For each investigated proband, the probability of being carrier of a BRCA1/BRCA2 mutation was evaluated using the BRCAPRO software.
A group of 83 Spanish BC/OC families were analysed for BRCA1 germ-line mutations. Analysis of the entire coding sequence was carried out by SSCP and PTT. We identified 5 frameshift mutations: 185delAG (2 times), 189insTGTC, 1241delAC, and 5537delA and 3 missense mutations in BRCA1: 330A G G, 1240C G
We identified 17 BRCA1 mutations in 86 Austrian breast and ovarian cancer families (20%) that were screened for mutations by denaturing high-performance liquid chromatography (DHPLC) and the protein truncation test (PTT). Eleven distinct mutations were detected, 4 of them (962del4, 2795del4, 3135del
## 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