title: Novel germline RET mutation segregating with papillary thyroid carcinomas.
abstract: 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.
authors.affiliation: Laboratoire de Biologie Cellulaire et Hormonale, Hôpital A. de Villeneuve, CHU de Montpellier, Montpellier, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Rey
authors.forename: J P
authors.initials: JP
authors.lastname: Brouillet
authors.forename: J
authors.initials: J
authors.lastname: Fonteneau-Allaire
authors.forename: A
authors.initials: A
authors.lastname: Boneu
authors.forename: D
authors.initials: D
authors.lastname: Bastié
authors.forename: T
authors.initials: T
authors.lastname: Maudelonde
authors.forename: P
authors.initials: P
authors.lastname: Pujol
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D002291:Carcinoma, Papillary / Q000235:genetics*; D029721:Drosophila Proteins; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila