Title: Low incidence of germline mutation in BRCA1 exon 11 among early-onset and familial Filipino breast cancer patients
Authors: Alejandro Q. Nato, Jr., Sheila C. Sajise, and Custer C. Deocaris
Technical Report Institution: Philippine Nuclear Research Institute
Catalogued by: International Nuclear Information System
Publication Date: 2002
Volume: 33
Issue: 47
Technical Report Source: PNRI-C(NM)--02002
Technical Report Reference Number: 33064734
Abstract: Breast cancer susceptibility gene, type 1 (BRCA1) has been thought to be responsible for about 45% of families with multiple breast carcinoma cases and for more than 80% of hereditary breast and ovarian cancer (HBOC) families. About 61-75% of the reported distinct alterations that result in truncated protein products have been found in exon 11 which comprises 61% (3427bp) of the coding sequence of BRCA1 (5592bp). Protein truncation test (PTT) has become a popular method as an efficient means of screening mutations in a coding sequence that lead to a truncated protein product. In this study, 34 early-onset and/or familial breast cancer (FBC) patients were investigated. Twenty-six patients are early-onset B(O)C cases (diagnosed ≤40 years old), 14 of which have familiarity of the disease. Among the 8 patients that have been diagnosed above 40 years old, 7 have familial clustering. Through radioactive PTT analysis of the 34 BC cases in a 5-20% denaturing gradient polyacrylarnicle gel, we found only one mutation in exon 11 having a 29.7 kDa truncated protein product. Our results corroborate the findings of a recently reported study of unselected incident breast cancer cases in the Philippines where the prevalence of BRCA1 mutation is also low. This would, however, be the second documented mutation in BRCA1 exon 11 in a Filipino BC patient since 1998.
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