A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature.
High-penetrance autosomal dominant cancer susceptibility genes such as BRCA2 and MEN1 result in specific patterns of cancers in individuals who inherit germline mutations. Their incidence in the population is relatively low, however, and it is highly unusual to identify individuals with two or more inherited cancer gene mutations. We describe a family with multiple cases of MEN1-associated cancers as well as pancreatic adenocarcinoma, ovarian cancer, and male breast cancer, in which we identified germline mutations in both MEN1 and BRCA2. To our knowledge, this is the first report of a patient with both MEN1 and BRCA2 mutations and with a personal history of hyperparathyroidism and pancreatic neuroendocrine tumors.
Ghataorhe
Pavandeep
P
School of Medicine, Oxford University, South Parks Road, Oxford OX1 3PL, UK.
Kurian
Allison W
AW
Pickart
Angela
A
Trapane
Pamela
P
Norton
Jeffrey A
JA
Kingham
Kerry
K
Ford
James M
JM
D000230:Adenocarcinoma / Q000235:genetics; D000328:Adult; D018278:Carcinoma, Neuroendocrine / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D006980:Hyperthyroidism / Q000150:complications* / Q000175:diagnosis; D009377:Multiple Endocrine Neoplasia / Q000235:genetics; D010190:Pancreatic Neoplasms / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins