Variant: rs74799832

present in Gene: RET present in Chromosome: 10 Position on Chromosome: 43121968 Alleles of this Variant: T/C

rs74799832 in RET gene and Medullary carcinoma of thyroid PMID 18073307 2008 Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study.

PMID 23056499 2012 AZD1480 blocks growth and tumorigenesis of RET- activated thyroid cancer cell lines.

PMID 21422803 2012 Anti-tumor activity of motesanib in a medullary thyroid cancer model.

PMID 11351254 2001 These MTCs also harbored the somatic RET M918T mutation and also showed the highest numbers of CGH alterations in the series (p<0.003).

PMID 17108110 2006 Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B.

PMID 9839497 1998 C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T.

PMID 10445857 1999 Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 15277225 2004 We tested on thyroid follicular cells the transforming activity of RET(C634S), RET(K603Q), another mutant identified in a kindred with both PTC and MTC, RET(C634R) a commonly isolated allele in MEN2A, RET(M918T) responsible for MEN2B and also identified in kindreds with both PTC and MTC, and RET/PTC1 the rearranged oncogene that characterizes bona fide PTC in patients without MTC.

rs74799832 in RET gene and Multiple Endocrine Neoplasia Type 1 PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

rs74799832 in RET gene and Multiple Endocrine Neoplasia Type 2a PMID 10679286 2000 A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations.

PMID 9242375 1997 Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.

PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

PMID 21810974 2011 In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer.

PMID 8918855 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

rs74799832 in RET gene and Multiple Endocrine Neoplasia Type 2b PMID 8918855 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 10679286 2000 A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations.

PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

PMID 15281979 2004 External ophthalmic findings in multiple endocrine neoplasia type 2B.

PMID 8880581 1996 Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).

PMID 17848262 2007 Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report.

PMID 7906417 1994 Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 22992277 2012 Patients with Multiple Endocrine Neoplasia type 2 (MEN 2) are at high risk of developing aggressive medullary thyroid carcinoma (MTC) in childhood, with the highest risk in those with MEN type 2B (of whom >95% have an M918T RET proto-oncogene mutation).

PMID 21863057 2012 Clinical utility gene card for: multiple endocrine neoplasia type 2.

PMID 7824936 1995 Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.

PMID 10445857 1999 Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.

PMID 19240193 2009 Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 9242375 1997 Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.

PMID 19469690 2009 Medullary thyroid cancer: management guidelines of the American Thyroid Association.

PMID 7906866 1994 A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.

PMID 11739416 2001 Guidelines for diagnosis and therapy of MEN type 1 and type 2.

rs74799832 in RET gene and Multiple Endocrine Neoplasia, Type IV PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

rs74799832 in RET gene and Multiple endocrine neoplasia Type 2 PMID 8570194 1995 RET activation by germline MEN2A and MEN2B mutations.

PMID 21810974 2011 In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer.

PMID 9242375 1997 Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.

PMID 8918855 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

PMID 20516206 2010 Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.

PMID 16715139 2006 Evaluation of potential mechanisms underlying genotype-phenotype correlations in multiple endocrine neoplasia type 2.

PMID 7906417 1994 Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.

PMID 27539324 2016 Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

rs74799832 in RET gene and Thyroid Neoplasm PMID 20368568 2010 Phase II clinical trial of sorafenib in metastatic medullary thyroid cancer.

PMID 20847059 2010 Phase II study of daily sunitinib in FDG-PET-positive, iodine-refractory differentiated thyroid cancer and metastatic medullary carcinoma of the thyroid with functional imaging correlation.

PMID 21455200 2011 Targeted therapies for thyroid tumors.

PMID 20065189 2010 Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer.

PMID 22025146 2012 Vandetanib in patients with locally advanced or metastatic medullary thyroid cancer: a randomized, double-blind phase III trial.

PMID 9681850 1998 Molecular biology of the MEN2 gene.

PMID 23056499 2012 Thyroid cancer cell lines harboring RET/PTC1 (TPC-1), RET M918T (MZ-CRC1) and RET C634W (TT) alterations, as well as TPC-1 xenografts, were treated with JAK inhibitor, AZD1480.

PMID 19255327 2009 Phase II trial of sorafenib in metastatic thyroid cancer.

PMID 21470995 2011 The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells.

PMID 18541894 2008 Phase II trial of sorafenib in advanced thyroid cancer.