Disease: Malignant Neoplasms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group BEFREE Although FANCD2-associated nuclease 1 (FAN1) contributes to ICL repair, FAN1 mutations predispose to karyomegalic interstitial nephritis (KIN) and cancer rather than to FA. 29051491 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group BEFREE We detected FAN1 mutations in approximately 3% of families who met the Amsterdam criteria and had mismatch repair-proficient cancers with no previously associated mutations. 26052075 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group BEFREE In one family, FAN1 R377W, predicted to be damaging by SIFT and PolyPhen2, was present in all six tested members with cancer (five with breast cancer, one with malignant melanoma). 21858661 2011