Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.770 | GeneticVariation | BEFREE | Furthermore, we showed that the co-occurrence of Y791F with the strong RET C634Y mutation explains the aggressive MTC phenotypes observed in a large affected family that was initially reported as Y791F-only. | 25425582 | 2015 |
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0.770 | GeneticVariation | BEFREE | The overall penetrance of MTC and pheochromocytoma in patients with the p.C634Y/p.Y791F mutations was 79% and 13%, respectively. | 23723040 | 2013 |
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0.770 | GeneticVariation | BEFREE | 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. | 15277225 | 2004 |
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0.770 | GeneticVariation | BEFREE | Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation. | 12746565 | 2003 |
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0.770 | GeneticVariation | BEFREE | Family 1 showed a germline mutation (C634Y) in three individuals; a sister and a brother with symptomatic MTC; the former also presented with pheochromocytoma and hyperparathyroidism, and her son was a nine-year-old boy of previously unknown status. | 11987030 | 2002 |
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0.770 | GeneticVariation | BEFREE | Small MTC in C634R may be less aggressive than those in C634Y and M918T. | 9839497 | 1998 |
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A | 0.770 | GeneticVariation | CLINVAR | RET activation by germline MEN2A and MEN2B mutations. | 8570194 | 1995 |
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0.770 | GeneticVariation | BEFREE | A 6 base pair (bp) deletion causing the loss of a cysteine residue at codon 634 and a mutation causing substitution from cysteine to tyrosine at codon 634 were detected in 2 sporadic MTCs as somatic events. | 8556059 | 1995 |