Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C515S
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RET

NM_020975.6:p.C515S

Associated Papers

An integrative pan cancer analysis of RET aberrations and their potential clinical implications.

Zhou L et al.

Scientific Reports, 2022

GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review.

Maciel RMB et al.

European Journal of Endocrinology, 2021

Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective.

Fussey JM et al.

Clinical Endocrinology, 2021

A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.

Romei C et al.

International Journal of Molecular Sciences, 2021

Long-term outcome after DNA-based prophylactic neck surgery in children at risk of hereditary medullary thyroid cancer.

Machens A et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2019

Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives.

Khatami F et al.

Biomarker Insights, 2018

A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.

Martins-Costa MC et al.

Archives of Endocrinology and Metabolism, 2018

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Lebeault M et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

28946813 (PubMed )
Supplement: sj-pdf-2-thy-10.1089_thy.2016.0399.pdf

Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.

Mathiesen JS et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.

Qi XP et al.

Oncotarget, 2015

Identification and characterization of two novel germline RET variants associated with medullary thyroid carcinoma.

Silva AL et al.

Endocrine, 2015

In silico analysis of RET variants in medullary thyroid cancer: from the computer to the bedside.

Heineman TE et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2015

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Toledo RA et al.

Endocrine-related Cancer, 2015

25425582 (PubMed )
Supplement: supp_ERC-14-0491_Supplementary_table_3.xlsx › Sheet1

Histopathology of C Cells and Medullary Thyroid Carcinoma.

Schmid KW

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2015

Central role of RET in thyroid cancer.

Santoro M et al.

Cold Spring Harbor Perspectives in Biology, 2013

Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.

Wells SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.

Sarika HL et al.

Clinical Endocrinology, 2012

The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia type 2A in a Brazilian kindred and is able to induce a malignant phenotype in vitro and in vivo.

Oliveira MN et al.

Thyroid : Official Journal of the American Thyroid Association, 2011

Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.

Romei C et al.

European Journal of Endocrinology, 2010

Multiple endocrine neoplasia type 2.

Wohllk N et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.

Muzza M et al.

European Journal of Endocrinology, 2010

Beyond RET: potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma.

Santarpia L et al.

Journal of Internal Medicine, 2009

Medullary thyroid cancer: management guidelines of the American Thyroid Association.

Kloos RT et al.

Thyroid : Official Journal of the American Thyroid Association, 2009

Pediatric Medullary Thyroid Carcinoma.

Starenki D et al.

Journal of Pediatric Oncology, 0

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