Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study | Zendy

Jes Sloth Mathiesen | Zendy; Mouhammed Amir Habra | Zendy; John Howard Duncan Bassett | Zendy; Sirazum Choudhury | Zendy; Sabapathy P. Balasubramanian | Zendy; Trevor A. Howlett | Zendy; Bruce G. Robinson | Zendy; AnnePaule GimenezRoqueplo | Zendy; Frédéric Castinetti | Zendy; Peter Vestergaard | Zendy; Karin FrankRaue | Zendy

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Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study

Author(s) -

Jes Sloth Mathiesen,

Mouhammed Amir Habra,

John Howard Duncan Bassett,

Sirazum Choudhury,

Sabapathy P. Balasubramanian,

Trevor A. Howlett,

Bruce G. Robinson,

AnnePaule GimenezRoqueplo,

Frédéric Castinetti,

Peter Vestergaard,

Karin FrankRaue

Publication year - 2017

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.2016-3640

Subject(s) - medicine , penetrance , germline mutation , pheochromocytoma , thyroidectomy , thyroid carcinoma , multiple endocrine neoplasia type 2 , oncology , multiple endocrine neoplasia , retrospective cohort study , lymph node , thyroid , mutation , genetics , biology , gene , phenotype

The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC), the A883F mutation has been reclassified from the highest to the high-risk level, although no well-defined risk profile for this mutation exists.

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