BRCA1 and BRCA2 mutations in central and southern Italian patients
AUTOR(ES)
Ottini, Laura
FONTE
BioMed Central
RESUMO
Protein truncation test (PTT) and single-strand conformation polymorphism (SSCP) assay were used to scan the BRCA1 and BRCA2 genes in 136 unrelated Italian breast/ovarian cancer patients. In the sample tested, BRCA1 and BRCA2 equally contributed to site-specific breast cancer patients who reported one to two breast cancer-affected first-/ second-degree relative(s) or who were diagnosed before age 40 years in the absence of a family history of breast/ovarian cancer. BRCA1 and BRCA2 mutations were mostly found in patients with disease diagnosis before and after age 50 years, respectively. Moreover, in cases with familial clustering of site-specific breast cancer, BRCA1 mostly accounted for tumours diagnosed before age 40 years and BRCA2 for tumours diagnosed after age 50 years. The BRCA1 and BRCA2 mutation spectrum was consistent with a lack of significant founder effects in the sample of patients studied.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=13918Documentos Relacionados
- Role of BRCA1 and BRCA2 mutations in pancreatic cancer
- Contribution of BRCA1 and BRCA2 Mutations to Breast and Ovarian Cancer in Pakistan
- BRCA1 and BRCA2 mutations in a population-based study of male breast cancer
- BRCA1 and BRCA2 proteins: roles in health and disease.
- BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients.
