Article
Y179C, F486L and N550H are BRCA1 variants that may be associated with breast cancer in a Sicilian family: results of a 5-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study.
Annals of oncology : official journal of the European Society for Medical Oncology - 1 Jun 2006
Augello C, Bruno L, Bazan V, Calò V, Agnese V, Corsale S, Cascio S, Gargano G, Terrasi M, Barbera F, Fricano S, Adamo B, Valerio M R, Colucci G, Sumarcz E, Russo A
Abstract excerpt
BACKGROUND: Over 600 different pathogenic mutations have been identified in the BRCA1 gene. Nevertheless, numerous missense mutations of unknown biological function still exist. Understanding of biological significance of these mutations should help in genetic counselling to carriers and their families. PATIENTS AND METHODS: A total of 104 patients with breast and/or ovarian cancer whose genetic counselling...
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