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 |
164761.0008; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA |
| Identified Mutation |
CYS618SER; Xue et al. [Hum. Molec. Genet. 3: 635-638 (1994)] found a
cys364-to-ser mutation (CYS364SER), caused by a TGC-to-TCC transversion in
the RET gene, in affected members of a family with medullary thyroid
carcinoma. Based on the full-length sequence of the RET gene, this
mutation is cys618 to ser. |
| Remarks |
Clinically affected; the donor subject is a member of a very large kindred with 14 known individuals with familial medullary thyroid carcinoma [NL family (Xue et al. Hum. Molec. Genet. 3: 635-638, 1994)]; medullary thyroid cancer is low to moderate in its aggressiveness; there is a low incidence of pheochromocytoma; no parathyroid disease has been observed; one allele carries a TGC-to-TCC transversion resulting in a substitution of serine for cysteine at codon 618 [CYS618SER (C618S)] in the RET gene. |
| Hong F, Ma D, Wu K, Mina LA, Luiten RC, Liu Y, Yan H, Green AA, Precise and Programmable Detection of Mutations Using Ultraspecific Riboregulators Cell180:1018-1032.e16 2019 |
| PubMed ID: 32109416 |
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| 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, 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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