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.
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.
Papi
Laura
L
Medical Genetics Unit, Department of Clinical Pathophysiology, University of Florence, Florence, Italy.
Palli
Domenico
D
Masi
Laura
L
Putignano
Anna Laura
AL
Congregati
Caterina
C
Zanna
Ines
I
Marini
Francesca
F
Giusti
Francesca
F
Luzi
Ettore
E
Tonelli
Francesco
F
Genuardi
Maurizio
M
Brandi
Maria Luisa
ML
Falchetti
Alberto
A
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*
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins