Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.760 | GeneticVariation | BEFREE | Genetic analysis was performed in 251 relatives from 28 Ser891Ala kindreds, among 108 p.Ser891Ala asymptomatic carriers, 64 were submitted to thyroidectomy: mean age for 10 subjects presenting C-cells hyperplasia was 30.2 ± 13.7 years, raising to 37.9 ± 10.3 in 14 subjects with micro-MTC and to 55.0 ± 14.7 years in 39 subjects with MTC. | 30927507 | 2019 |
||||
|
0.760 | GeneticVariation | BEFREE | Three of the six p.S891A mutation carriers presented with medullary thyroid carcinoma (MTC). | 26356818 | 2015 |
||||
|
0.760 | GeneticVariation | BEFREE | S891A mutation caused medullary thyroid cancer (MTC) in 69.4%, pheochromocytoma in 2.8%, and parathyroid hyperplasia in 8.3% of the 36 patients of this case series and in 63.5, 4.1, and 4.1%, respectively, for the entire groups of 74 patients. | 20554711 | 2010 |
||||
|
0.760 | GeneticVariation | BEFREE | The other two patients are members of a large multigenerational family affected with familial MTC due to a germline mutation of the RET gene (Ala891Ser). | 15947103 | 2005 |
||||
|
G | 0.760 | GeneticVariation | CLINVAR | RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor. | 15753368 | 2005 |
|||
|
0.760 | GeneticVariation | BEFREE | Two patients, from different branches of the family, did not harbour the point mutation A891S despite histological confirmation of MTC. | 11849247 | 2002 |
||||
|
0.760 | GeneticVariation | BEFREE | Here we describe a novel intracellular mutation in exon 15 of the ret gene that leads to the substitution of an alanine for a serine at codon 891 in a family with medullary thyroid carcinoma. | 9398735 | 1997 |