Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75234356
rs75234356
RET
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

dbSNP: rs75234356
rs75234356
RET
0.760 GeneticVariation BEFREE Three of the six p.S891A mutation carriers presented with medullary thyroid carcinoma (MTC). 26356818

2015

dbSNP: rs75234356
rs75234356
RET
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

dbSNP: rs75234356
rs75234356
RET
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

dbSNP: rs75234356
rs75234356
RET
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

dbSNP: rs75234356
rs75234356
RET
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

dbSNP: rs75234356
rs75234356
RET
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