Article
Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 1 Apr 2005
Gómez-García Encarna B, Ambergen Ton, Blok Marinus J, van den Wijngaard Arthur
Abstract excerpt
PURPOSE: To obtain and compare the probabilities of finding a mutation in the BRCA1 or BRCA2 genes, the clinical features, and the family history among patients with an unclassified variant (UV) and those with a pathogenic mutation. PATIENTS AND METHODS: The study included 70 patients: 24 with a UV (BRCA1, n = 4; BRCA2, n = 19; both, n = 1), and 46 with a mutation (BRCA1, n = 32; BRCA2, n = 14). Two of the UVs...
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