rs77709286, RET

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.010 GeneticVariation BEFREE Individuals with the C634R mutation presented significantly more distant metastases at diagnosis than subjects with the C634Y or C634W mutations (54.5% vs. 19.4% vs. 14.3%, respectively, P = 0.03). 12788868 2003
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.010 GeneticVariation BEFREE Individuals with the C634R mutation presented significantly more distant metastases at diagnosis than subjects with the C634Y or C634W mutations (54.5% vs. 19.4% vs. 14.3%, respectively, P = 0.03). 12788868 2003
C-cell hyperplasia of thyroid
CUI: C0342190
Disease: C-cell hyperplasia of thyroid
0.010 GeneticVariation BEFREE Sequencing analysis of the RET proto-oncogene revealed a Cys634Trp (TGC->TGG) mutation in all clinically affected family members and in an asymptomatic 5-year-old child who, after thyroidectomy, was found to have multicentric medullary thyroid carcinoma and C-cell hyperplasia. 11939755 2002
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.700 GeneticVariation CLINVAR Vandetanib in patients with locally advanced or metastatic medullary thyroid cancer: a randomized, double-blind phase III trial. 22025146 2012
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.700 GeneticVariation CLINVAR 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. 23056499 2012
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.700 GeneticVariation CLINVAR The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells. 21470995 2011
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.700 GeneticVariation CLINVAR Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer. 20065189 2010
Multiple Endocrine Neoplasia Type 2b
0.700 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194 1995
Multiple Endocrine Neoplasia, Type IV
0.700 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194 1995
Multiple Endocrine Neoplasia Type 1
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
0.700 GeneticVariation CLINVAR RET activation by germline MEN2A and MEN2B mutations. 8570194 1995
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Surgery in MEN 2A Patients Older Than 5 Years with Micro-MTC: Outcome at Long-term Follow-up. 27406704 2016
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients. 23404858 2013
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 GeneticVariation BEFREE Three different known RET germline mutations in exon 11 (codon 634), p.Cys634Arg (c1900 T-->C) (de novo case), p.Cys634Phe (c1901 G-->T), p.Cys634Trp (c1902 C-->G), were detected in three individuals with MEN2 phenotype. 19841562 2010
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation. 18794325 2008
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Evidence of MEN-2 in the original description of classic pheochromocytoma. 17898100 2007
Familial medullary thyroid carcinoma
0.710 GeneticVariation BEFREE The patient with FMTC had a mutation in codon 634 (C634W). 15588376 2004
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR RET codon 634 mutations in multiple endocrine neoplasia type 2: variable clinical features and clinical outcome. 12788868 2003
Multiple endocrine neoplasia Type 2
CUI: C4048306
Disease: Multiple endocrine neoplasia Type 2
0.710 CausalMutation CLINVAR Early onset of medullary thyroid carcinoma in a kindred with multiple endocrine neoplasia type iia associated with cutaneous lichen amyloidosis. 11939755 2002
Familial medullary thyroid carcinoma
0.710 GeneticVariation UNIPROT Three novel mutations in the RET proto-oncogene. 11692159 2001
Familial medullary thyroid carcinoma
0.710 GeneticVariation UNIPROT A RET double mutation in the germline of a kindred with FMTC. 10826520 2000
Familial medullary thyroid carcinoma
0.710 GeneticVariation UNIPROT A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. 10323403 1999
Familial medullary thyroid carcinoma
0.710 GeneticVariation UNIPROT A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma. 9452077 1998
Familial medullary thyroid carcinoma
0.710 GeneticVariation UNIPROT Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. 9621513 1998
Familial medullary thyroid carcinoma
0.710 GeneticVariation UNIPROT A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. 9506724 1998
Familial medullary thyroid carcinoma
0.710 GeneticVariation UNIPROT Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma. 9677065 1998