GM16660

GM16660 LCL from B-Lymphocyte

Description:

MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2
RET PROTOONCOGENE; RET

Affected:

Yes

Sex:

Male

Age:

57 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Hereditary Cancers
GeT-RM Samples

Class

Heritable Cancer Syndromes and other Cancers

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

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.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

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

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.

Phenotypic Data

Remarks

Publications

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

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

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

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