Open AccessHow to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?
Author(s) -
Thomas Karrasch,
Saskia M. Herbst,
Ute Hehr,
Andreas Schmid,
Andréas Schäffler
Publication year - 2016
Publication title -
european thyroid journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.23
H-Index - 10
eISSN - 2235-0802
pISSN - 2235-0640
DOI - 10.1159/000443730
Subject(s) - missense mutation , medullary thyroid cancer , medicine , exon , germline , multiple endocrine neoplasia , germline mutation , genetics , mutation , thyroid , thyroid cancer , gene , biology
Familial medullary thyroid cancer (FMTC) is caused by gain of function mutations in the proto-oncogene RET (rearranged during transfection). Missense mutations within exon 14 including p.Val804Met are known to cause FMTC and multiple endocrine neoplasia type 2a/b. The clinical significance of other novel missense variants within this hotspot region of exon 14 is not delineated.