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MEN1Multiple Endocrine Neoplasia Type 1 (disorder)
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7] Human genes: MEN1, multiple endocrine neoplasia 1; RET, ret protooncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease).
Germilne mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.
Heppner C, Kester MB, Agarwal SK, Debelenko LV, Emmert-Buck MR, Guru SC, et al, Somatic mutation of the MEN1 gene in parathyroid tumours.
Sometimes a patient with MEN1 knows of no other case of FMEN1 among relatives.
A carrier is a person who has the MEN1 gene mutation.
While the mutated gene is not identified in many cases, there are kindreds in which either MEN1 or HRPT2 have been identified.
In the case of the MEN1 gene, evidence is beginning to accumulate that suggests that its function is likely to be lost in some sporadic cancers of the same tissues affected in the hereditary MEN1 syndrome.
A recent study performed using fresh-frozen tissue has demonstrated that MEN1 mutations, detected by single-strand conformational polymorphism analysis, occur in 33% of sporadic gastrinomas and 17% of insulinomas (8).
MEN1 gene encodes a 68-kDa protein of 610 amino acids named menin.
However, retention of the normal MEN1 allele in these cells indicates that they are still nonneoplastic in nature.
Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism.
Molecular studies show a high incidence of loss of heterozygosity at the MEN1 gene in all subtypes of primary pulmonary neuroendocrine carcinomas.