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BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy

✍ Scribed by L. Stuppia; P. Di Fulvio; G. Aceto; S. Pintor; S. Veschi; V. Gatta; A. Colosimo; E. Cianchetti; A. Cama; R. Mariani-Costantini; P. Battista; G. Palka

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 112 KB
Volume: 22
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9164

No coin nor oath required. For personal study only.

✦ Synopsis

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. We detected BRCA1/BRCA2 mutations in 8 patients (11.7%). However, if considering only patients with a carrier probability >10%, the detection rate was 36.8%, confirming the usefulness of the BRCAPRO software. One change (BRCA1 4172insT) was a novel mutation not reported in BIC database.

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