Sophie Gad

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: It is shown that Apc is a crucial determinant of cell fate in the murine intestinal epithelium, and perturbs differentiation along the enterocyte, goblet and enteroendocrine lineages, and promotes commitment to the Paneth cell lineage through β-catenin/Tcf4-mediated transcriptional control of specific markers of Paneth cells, the cryptdin/defensin genes.

TL;DR: A patient with erythrocytosis and recurrent paraganglioma who carries a newly discovered PHD2 mutation is described and loss of heterozygosity ofPHD2 in the tumor is demonstrated, suggesting that PHD 2 could be a tumor-suppressor gene.

TL;DR: Using whole-exome sequencing and tumor profiling in a family prone to cases of RCC, a germline BAP1 mutation c.277A>G (p.Thr93Ala) is identified as the probable genetic basis of R CC predisposition and BAP 1 was found to be inactivated in RCC-affected individuals from this family.

TL;DR: The modified method described here, named quantitative multiplex PCR of short fluorescent fragments (QMPSF), is particularly well suited for large genes and may be included into the routine molecular analysis of breast‐ovarian cancer predispositions.