p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer | Zendy

Chey Loveday | Zendy; Katherine Josephs | Zendy; Daniel Chubb | Zendy; Adam C. Gunning | Zendy; Louise Izatt | Zendy; Marc Tischkowitz | Zendy; Sian Ellard | Zendy; Clare Turnbull | Zendy

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p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

Author(s) -

Chey Loveday,

Katherine Josephs,

Daniel Chubb,

Adam C. Gunning,

Louise Izatt,

Marc Tischkowitz,

Sian Ellard,

Clare Turnbull

Publication year - 2018

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2017-02529

Subject(s) - penetrance , medullary thyroid cancer , proto oncogene proteins c ret , exome , thyroid cancer , population , exome sequencing , medicine , oncology , genetics , mutation , allele frequency , cancer , allele , cancer research , biology , gene , phenotype , receptor , environmental health , neurotrophic factors , glial cell line derived neurotrophic factor

To date, penetrance figures for medullary thyroid cancer (MTC) for variants in rearranged during transfection (RET) have been estimated from families ascertained because of the presence of MTC.

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