Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

doi:10.1093/hmg/ddw057

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Article

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Human molecular genetics - 1 May 2016

Smith Joel, Read Martin L, Hoffman Jon, Brown Rachel, Bradshaw Beth, Campbell Christopher, Cole Trevor, Navas Johanna Dieguez, Eatock Fiona, Gundara Justin S, Lian Eric, Mcmullan Dom, Morgan Neil V, Mulligan Lois, Morrison Patrick J, Robledo Mercedes, Simpson Michael A, Smith Vicki E, Stewart Sue, Trembath Richard C, Sidhu Stan, Togneri Fiona S, Wake Naomi C, Wallis Yvonne, Watkinson John C, Maher Eamonn R, McCabe Christopher J, Woodward Emma R

Abstract excerpt

Familial medullary thyroid cancer (MTC) and its precursor, C cell hyperplasia (CCH), is associated with germline RET mutations causing multiple endocrine neoplasia type 2. However, some rare families with apparent MTC/CCH predisposition do not have a detectable RET mutation. To identify novel MTC/CCH predisposition genes we undertook exome resequencing studies in a family with apparent predisposition to MTC/CCH...

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Identifiers

PMID: 26945007
DOI: 10.1093/hmg/ddw057

Genes

RET
ESR2

Provenance

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