rs1799939, RET

N. diseases: 27
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.070 GeneticVariation BEFREE (3) The single-nucleotide polymorphisms (SNP) G691S in exon 11 (rs1799939), S904S in exon 15 (rs1800863), and rs2075912 and rs2565200 in the 3'-untranslated region of the RET proto-oncogene are in complete linkage disequilibrium (D' = 1, r2 = 1); no correlation of these SNP and MTC was observed in this pedigree. 27798940 2017
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.070 GeneticVariation BEFREE The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies. 25887804 2015
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.070 GeneticVariation BEFREE In silico analyses on G691S confirmed a change of the phosphorylation pattern that might account for the enhanced signaling transduction previously reported for G691S in several cancers, thus also explaining its overrepresentation in MTCs. 23180660 2013
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.070 GeneticVariation BEFREE Here, we investigated the influence of multiple RET variants (G691S, L769L, S836S, and S904S) on the risk of MTC and tumor behavior. 22345297 2012
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.070 GeneticVariation BEFREE Clinical relevance of RET variants G691S, L769L, S836S and S904S to sporadic medullary thyroid cancer. 22111543 2012
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.070 GeneticVariation BEFREE SNPs in exon 11 (G691S) and exon 15 (S904S) appear to influence the development of MTC. 21134561 2010
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.070 GeneticVariation BEFREE The prevalence of the RET polymorphism G691S of exon 11 is higher in patients with medullary thyroid carcinoma (MTC) as compared to the general population. 19411807 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Here, we investigated the influence of multiple RET variants (G691S, L769L, S836S, and S904S) on the risk of MTC and tumor behavior. 22345297 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE We suggest that molecular profiling of each patient's tumor for G691S RET SNP, potentially CXCR2 SNP, and also other yet-to-be identified SNP associated with pancreatic cancer will allow for both improved understanding of individual prognosis and allow for utilization of more personalized, targeted adjuvant therapies. 19057948 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE The RET (rearranged during transfection) proto-oncogene G691S variant is over-represented in the germline of patients with sporadic medullary thyroid carcinoma (sMTC) vs. normal controls but so far is not associated with any medical or pathological features of the tumour. 18331611 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE We investigated LOH for three RET SNPs (G691S, S904S, and L769L) in tumor and normal tissue from 46 patients from Ukraine and Belarus who were exposed to radioactive fallout following the Chernobyl nuclear accident and were operated for papillary thyroid carcinoma between 1995 and 2000. 15753666 2005
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.030 GeneticVariation BEFREE In conclusion, RET gene G691S/S904S polymorphisms were over-represented and L769L polymorphism was under-represented in PTC and FTC patients. 25736215 2015
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.030 GeneticVariation BEFREE Occurrence of medullary thyroid carcinoma, bronchial carcinoid tumor, and papillary thyroid carcinoma in a family bearing the RET G691S polymorphism. 19411807 2009
THYROID CARCINOMA, SPORADIC MEDULLARY
0.030 GeneticVariation BEFREE Our data demonstrate that the RET G691S variant could modulate the age of onset of sMTC as demonstrated previously for familial tumours. 18331611 2008
THYROID CARCINOMA, SPORADIC MEDULLARY
0.030 GeneticVariation BEFREE On the other hand, the frequency and distribution of G691S/S904S variants were similar in both groups of study, leading to exclude their role in sMTC in our series. 16646689 2006
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.030 GeneticVariation BEFREE We investigated LOH for three RET SNPs (G691S, S904S, and L769L) in tumor and normal tissue from 46 patients from Ukraine and Belarus who were exposed to radioactive fallout following the Chernobyl nuclear accident and were operated for papillary thyroid carcinoma between 1995 and 2000. 15753666 2005
THYROID CARCINOMA, SPORADIC MEDULLARY
0.030 GeneticVariation BEFREE RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population. 15240649 2004
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.020 GeneticVariation BEFREE The findings propose a classification of 15 of the 26 VUS in RET without any well-defined risk profiles and suggest that the G691S SNP, or a combination of SNPs, may be associated with the development of PHEO. 28946813 2017
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
0.020 GeneticVariation BEFREE The findings propose a classification of 15 of the 26 VUS in RET without any well-defined risk profiles and suggest that the G691S SNP, or a combination of SNPs, may be associated with the development of PHEO. 28946813 2017
Desmoplastic melanoma
CUI: C1333280
Disease: Desmoplastic melanoma
0.020 GeneticVariation BEFREE Ki-67, p53, and p16 expression, and G691S RET polymorphism in desmoplastic melanoma (DM): A clinicopathologic analysis of predictors of outcome. 27543214 2016
Desmoplastic melanoma
CUI: C1333280
Disease: Desmoplastic melanoma
0.020 GeneticVariation BEFREE Apart from RET G691S our findings demonstrate absence of activating driver mutations in pure desmoplastic melanoma beyond previously investigated oncogenes (BRAF, NRAS, and KIT). 25769001 2015
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.020 GeneticVariation BEFREE In present result, RET rs1799939, rs1800858 and rs74799832 polymorphisms might be the risk factors for TC. 26191299 2015
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.020 GeneticVariation BEFREE We did not observe any association between the frequencies of L769L, S836S, or S904S/G691S variants and PHEO development (all P>0.05). 24616415 2014
Adrenal Gland Pheochromocytoma
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
0.020 GeneticVariation BEFREE We did not observe any association between the frequencies of L769L, S836S, or S904S/G691S variants and PHEO development (all P>0.05). 24616415 2014
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.020 GeneticVariation BEFREE A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signaling by glial cell-derived neurotrophic factor has been described and studied previously in pancreatic cancer, medullary thyroid cancer, the multiple endocrine neoplasia 2 syndromes, and recently in cutaneous malignant melanoma. 22189301 2012