Novel germline RET mutation segregating with papillary thyroid carcinomas

The RET proto‐oncogene is responsible for inherited medullary thyroid cancer syndromes. RET is also found mutated in sporadic medullary thyroid cancer (MTC) and rearranged in sporadic papillary thyroid carcinomas. Here, we describe a previously unreported germline RET mutation at codon 603 in exon 1...

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Bibliographic Details
Published in:Genes chromosomes & cancer 2001-12, Vol.32 (4), p.390-391
Main Authors: Rey, Jean-Marc, Brouillet, Jean-Paul, Fonteneau-Allaire, Joëlle, Boneu, Andrée, Bastié, Delphine, Maudelonde, Thierry, Pujol, Pascal
Format: Article
Language:English
Subjects:
Adult
Amino Acid Substitution - genetics
Carcinoma, Papillary - genetics
Drosophila Proteins
Female
Genetic Linkage - genetics
Genetic Predisposition to Disease - genetics
Germ-Line Mutation - genetics
Humans
Male
Pedigree
Proto-Oncogene Proteins - genetics
Proto-Oncogene Proteins c-ret
Receptor Protein-Tyrosine Kinases - genetics
thyroid carcinoma
Thyroid Neoplasms - genetics
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Summary:The RET proto‐oncogene is responsible for inherited medullary thyroid cancer syndromes. RET is also found mutated in sporadic medullary thyroid cancer (MTC) and rearranged in sporadic papillary thyroid carcinomas. Here, we describe a previously unreported germline RET mutation at codon 603 in exon 10 associated with both MTC and nonmedullary thyroid cancer (NMTC) in a kindred. RET may thus not be excluded as a potential candidate for predisposition to some forms of NMTC. © 2001 Wiley‐Liss, Inc.
ISSN:1045-2257
1098-2264
DOI:10.1002/gcc.1205