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
GeT-RM Samples |
| 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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1
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Relation to Proband
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proband
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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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| MUTATION VERIFICATION |
For multiply confirmed mutations by the GeT-RM program please click here: MTHFR SERPINA1 RET BRCA1 and BRCA2 Reference Materials characterized by GeT-RM |
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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 granddaughter is GM16659; 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. |
| Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV, Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing The Journal of molecular diagnostics : JMD11:553-61 2009 |
| PubMed ID: 19767587 |
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| Margraf RL, Mao R, Wittwer CT, Rapid diagnosis of MEN2B using unlabeled probe melting analysis and the LightCycler 480 instrument The Journal of molecular diagnostics : JMD10:123-8 2008 |
| PubMed ID: 18258924 |
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| 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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