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Article

A novel germline variant in RET gene resulting in an additional cysteine in a family with familial medullary thyroid carcinoma.

Familial cancer - 1 Jul 2021

Oriola Josep, Sanchez Aurora, Paniello Blanca, de la Bellacasa Jordi Puig, Biarnés Josefina

Abstract excerpt

Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant inherited disease, characterized by germ-line variants in RET proto-oncogene. Variants are frequently located in the RET extracellular cysteine-rich region domain, mainly affecting cysteines which are replaced by an alternative amino acid, resulting in a mispaired cysteine and the generation of RET dimers. We describe a novel c.1765A > T variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33084974
DOI: 10.1007/s10689-020-00214-0

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