Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756406117
rs756406117
PTH
0.010 GeneticVariation BEFREE This is the first case documenting a germline 70 G>T HRPT2/CDC73 gene mutation in a pediatric parathyroid carcinoma. 27544721

2016
dbSNP: rs374453691
rs374453691
PCA3 ; PRUNE2
0.010 GeneticVariation BEFREE PRUNE2 showed recurrent mutations in 18% (4/22) of PCs with additional screening in 40 PAs revealing only one rare missense polymorphism (Asp1677Asn). 25387265

2015
dbSNP: rs1042636
rs1042636
CASR
0.010 GeneticVariation BEFREE Calcium-sensing receptor polymorphism rs1042636 (Arg990Gly) affects the response to the calcimimetic cinacalcet, used to treat hypercalcemia in secondary hyperparathyroidism (sHPT) or parathyroid carcinoma. 22166946

2012
dbSNP: rs121434264
rs121434264
CDC73 ; LOC101929160
0.010 GeneticVariation BEFREE Transient overexpression of wild-type parafibromin, but not its Leu64Pro missense mutant implicated in parathyroid cancer and familial isolated hyperparathyroidism, inhibited cell proliferation, and blocked expression of cyclin D1, a key cell cycle regulator previously implicated in parathyroid neoplasia. 15580289

2005