Condition: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
rs149617956 in
MITF gene and
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
PMID 23787126 2013 MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.
PMID 22012259 2011 A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
PMID 26650189 2016 Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
PMID 24767713 2014 Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study.
PMID 23167872 2013 Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.
PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
PMID 27473757 2016 Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.
PMID 22080950 2011 A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
PMID 24406078 2014 MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors.
PMID 30414346 2019 Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
PMID 28125078 2017 Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.