Characterization of patients at high risk of melanoma in Austria

Abstract

Austrian patients could represent a reservoir for novel genetic variants. Further investigation of populations in Central and Eastern Europe might reveal more novel and disease-relevant variants.

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non‐CDKN2A/CDK4 melanoma families

“…31 A similar frequency, 3.4% (19/558) in familial cases, was found in a study from the United States, although it is unclear if these patients were all pre-screened for CDKN2A mutations. 32 Frequencies in various other cohorts range from 0 to 3%, 16,28,[33][34][35] with the lowest frequency (<1%) reported in familial cases from Italy. 17,36 In the Netherlands, diagnostic testing for the MITF p.E318K risk variant is now included in the default genetic work-up for familial CM and all carriers are offered regular dermatologic surveillance (regardless of the familial burden for CM).…”

Risk Factors of Subsequent Primary Melanomas in Austria

“…Data for CDKN2A exon 1α and 1β and exon 2 were available from 514 patients and were sequenced as described previously. 18 Carriers of CDKN2A mutations associated with a high risk of melanoma were compared with noncarriers. The coding sequence of MC1R was amplified by polymerase chain reaction for 953 patients as described previously.…”

How breakthroughs in translational research have impacted treatment strategies for melanoma

“…An Austrian study by Müller et al . of 1668 patients correlated the phenotypic characteristics of high‐risk individuals (childhood freckling, positive family history and blond/red hair colour) with driver mutations, such as CDKN2A , CDK4 , MITF and MC1R , known to be responsible for melanoma development . The results highlighted an association between CDKN2A mutations and a high risk of developing multiple melanomas, as well as identifying the presence of deleterious mutations in the MC1R , CDK4 and MITF genes of high‐risk individuals, revealing the complex interplay between genetic, phenotypic and environmental factors in melanoma development.…”