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How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?

Karrasch, Thomas ; Herbst, Saskia M. ; Hehr, Ute ; Schmid, Andreas ; Schäffler, Andreas



Abstract

Introduction and Background: 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 ...

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