Jean -Marc Limacher

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 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 GENESIS study allowed us to specify BC relative risks associated with deleterious‐predicted variants in PALB2, ATM and CHEK2 and to add MAST1, POLH, RTEL1 and FANCI to the list of DNA repair genes possibly involved in BC susceptibility.