engleski

Molecular and genetic characterization of the T309C missense transversion in BRCA1 codon 64 (C64R)

In the Milan area (Northern Italy) we have identified a family characterized by a high prevalence of ovary and breast cancer cases (5 out of 6 subjects over 3 generations, 83, 3%) in the mother lineage of a healthy male proband of 50 years of age. Analysis of BRCA1 and BRCA2 genes revealed the presence of a missense T309C transversion in the codon 64 of BRCA1. The aims of the present investigation were: (i) to characterize the functional consequences of the C64R substitution at the molecular level, and (ii) to study whether additional mutations or polymorphisms may be linked to the peculiar phenotypic features observed in the Italian pedigree.

BRCA1 ; transversion ; breast cancer

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