title: 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.
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.
authors.affiliation: Medical Genetics Unit, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Papi
authors.forename: Domenico
authors.initials: D
authors.lastname: Palli
authors.forename: Laura
authors.initials: L
authors.lastname: Masi
authors.forename: Anna Laura
authors.initials: AL
authors.lastname: Putignano
authors.forename: Caterina
authors.initials: C
authors.lastname: Congregati
authors.forename: Ines
authors.initials: I
authors.lastname: Zanna
authors.forename: Francesca
authors.initials: F
authors.lastname: Marini
authors.forename: Francesca
authors.initials: F
authors.lastname: Giusti
authors.forename: Ettore
authors.initials: E
authors.lastname: Luzi
authors.forename: Francesco
authors.initials: F
authors.lastname: Tonelli
authors.forename: Maurizio
authors.initials: M
authors.lastname: Genuardi
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Brandi
authors.forename: Alberto
authors.initials: A
authors.lastname: Falchetti
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D018095:Germ-Line Mutation; D006801:Humans; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins