Browsing by Author "Faundez, P"

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    Determination of a BRCA1 gene mutation in a family with hereditary breast cancer
    (SOC MEDICA SANTIAGO, 2004) Gallardo, M; Faundez, P; Cruz, A; Rodriguez, M; Alvarez, M; Carvallo, P
    Background: Breast cancer is the main cause of death among fore, the women between 40 and 55 years old, in whom the hereditary cases are common. Therefore molecular diagnosis of germ line initiations involved in breast cancer susceptibilily is relevant. BRCA1 and BRCA2 have been described as the two major genes involved in familial breast/ovarian cancer. We are performing a screening for BRCA 1 and BRCA2 genes, in a group of 50 high risk Chilean families for breast/ovarian cancer. We have detected a mutation, 3936 C > T, that leads to a truncated protein, in two affected women from one of the families in study.