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

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 delineated.

Case description

A three-generation pedigree of FMTC is presented with the co-occurrence of two missense variants within exon 14 of the RET gene, the known variant p.Val804Met and the novel variant p.Val826Met. The female index patient developed medullary thyroid cancer at the age of 42 years and was heterozygous for both missense variants. Her younger sister was also teste

SUBMITTER: Karrasch T 

PROVIDER: S-EPMC4836117 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature