Description:
MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2
RET PROTOONCOGENE; RET
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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2
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Relation to Proband
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granddaughter
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
RET |
| Chromosomal Location |
10q11.2 |
| Allelic Variant 1 |
164761.0024; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA |
| Identified Mutation |
CYS620PHE; In a family with MEN2A, Xue et al. [Hum. Molec. Genet. 3:
635-638 (1994)] found that affected members had a TGC-to-TTC transversion
resulting in a substitution of phenylalanine for cysteine-366 (CYS366PHE).
Based on the full-length sequence of the RET gene, this mutation is cys620
to phe. |
| Remarks |
Clinically affected; the donor subject is a member of a large kindred with multiple affected individuals [BRA family (Xue et al. Hum. Molec. Genet. 3: 635-638, 1994)]; this family is unusual because of the late onset of medullary thyroid cancer, the benign course of the tumor, and the low incidence of pheochromocytoma; no parathyroid disease has been observed; affected grandmother is GM16658; one allele carries a TGC-to-TTC transversion resulting in a substitution of phenylalanine for cysteine at codon 620 [CYS620PHE (C620F)] in the RET gene. |
| Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT, Mutation scanning of the RET protooncogene using high-resolution melting analysis Clinical chemistry52:138-41 2006 |
| PubMed ID: 16391329 |
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| Xue F, Yu H, Maurer LH, Memoli VA, Nutile-McMenemy N, Schuster MK, Bowden DW, Mao J, Noll WW, Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. Hum Mol Genet3(4):635-8 1994 |
| PubMed ID: 7915165 |
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