rs121913331, APC

N. diseases: 11
Disease: Primary malignant neoplasm ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.020 GeneticVariation BEFREE Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X & S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes. 28730258 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.020 GeneticVariation BEFREE Arg1114X in APC gene, as a hot spot mutation in Chinese CRC, may predispose to the cancer metastasis of sporadic CRC. 17653897 2007