Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report.

Cancer genetics and cytogenetics, 2009; 195 (1) doi:10.1016/j.cancergencyto.2009.06.019

Authors: Papi Laura, Palli Domenico, Masi Laura, Putignano Anna Laura, Congregati Caterina et al.(8)

Affiliation: University of Florence, Italy

Abstract: The simultaneous occurrence of mutations in two different tumor suppressor genes in the same individual is a very rare event. Here we report the case of a woman in whom germline mutations in both MEN1 and BRCA1 were identified. The severity of MEN1-related biochemical and clinical findings did not significantly differ from that for other affected family members lacking the BRCA1 mutation, except for the development of an extremely large visceral lipoma; the proband has not developed any BRCA1-related malignancies. We explore genetic and molecular rationales for an association between these neoplastic processes.

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