Paola Ghiorzo

TL;DR: A germline missense substitution in MITF (Mi-E318K) is identified that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls and provides insights into the link between SUMOylation, transcription and cancer.

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: 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.