Mark Harland

TL;DR: This study indicates that the penetrance of CDKN2A mutation penetrance varies with melanoma population incidence rates, and suggests that the same factors that affect population incidence of melanoma may also mediate CD KN2A penetrance.

TL;DR: Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.

TL;DR: Functional analysis of E318K showed that MITF encoded by the variant allele had impaired sumoylation and differentially regulated several MITF targets, indicating thatMITF is a melanoma-predisposition gene and highlight the utility of whole-genome sequencing to identify novel rare variants associated with disease susceptibility.

TL;DR: This GenoMEL study provides the most extensive characterization of mutations in high-risk melanoma susceptibility genes in families with three or more melanoma patients yet available and there was little evidence for an association between CDKN2A mutations and NST, but there was a marginally significant association between NST and ARF.

TL;DR: The variation in CDKN2A mutations for the four features across continents is consistent with the lower melanoma incidence rates in Europe and higher rates of sporadic melanoma in Australia, which reflects the divergent spectrum of mutations in families from Australia versus those from North America and Europe.