Although a heritable component is implicated in ~10% of melanomas, the prevalence and functional relevance of germline pathogenic variants (gPVs) in unselected patients remains unknown. We evaluated 701 patients with melanoma who underwent tumor-normal MSK-IMPACT sequencing (2015–2023) and germline analysis of ≥76 ca...
S. Lochrin, H. Walch, Y. Kemel et al.· npj Genomic Medicine· 0 citations
The data suggest that despite the heterogeneity in CRC, genomic evolution increases the impact of recurrent alterations, and integrating information about tumor primary location and genomics can be used to predict organ-specific metastasis risk.
Paolo Manca, H. Walch, Jierui Xu et al.· Cancer Cell· 1 citation
Using large, unselected pan-cancer cohorts and integrated tumor and genomic analysis can help refine the phenotype of rare cancer predisposition syndromes and suggest novel cancer associations, including BAP1 PVs in hepatobiliary cancers and FLCN in colorectal cancer.
M. Carlo, Andrew Schroeder, Jie Liu et al.· Journal of the National Canc...· 0 citations
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