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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

2009; Elsevier BV; Volume: 195; Issue: 1 Linguagem: Inglês

10.1016/j.cancergencyto.2009.06.019

1873-4456

Laura Papi, Domenico Palli, Laura Masi, Anna Laura Putignano, Caterina Congregati, Ines Zanna, Francesca Marini, Francesca Giusti, Ettore Luzi, Flavio Tonelli, Maurizio Genuardi, Maria Luisa Brandi, Alberto Falchetti,

Lung Cancer Research Studies

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.