Gene Set: KAUFFMANN_MELANOMA_RELAPSE_DN

Standard name KAUFFMANN_MELANOMA_RELAPSE_DN
Systematic name M6452
Brief description DNA repair and replication genes down-regulated in melanoma patients who will relapse vs patients who will not.
Full description or abstract We have identified a gene-profile signature for human primary malignant melanoma associated with metastasis to distant sites and poor prognosis. We analyse the differential gene expression by looking at whole biological pathways rather than individual genes. Among the most significant pathways associated with progression to metastasis, we found the DNA replication (P=10(-14)) and the DNA repair pathways (P=10(-16)). We concentrated our analysis on DNA repair and found that 48 genes of this category, among a list of 234 genes, are associated with metastatic progression. These genes belong essentially to the pathways allowing recovery of stalled replication forks due to spontaneous blockage or induced DNA lesions. Because almost all these differentially expressed repair genes were overexpressed in primary tumors with bad prognosis, we speculate that primary melanoma cells that will metastasize try to replicate in a fast and error-free mode. In contrast to the progression from melanocytes to primary melanoma, genetic stability appears to be necessary for a melanoma cell to give rise to distant metastasis. This overexpression of repair genes explains nicely the extraordinary resistance of metastatic melanoma to chemo- and radio-therapy. Our results may open a new avenue for the discovery of drugs active on human metastatic melanoma.
Collection C2: curated gene sets
      CGP: chemical and genetic perturbations
Source publication Pubmed 17891185   Authors: Kauffmann A,Rosselli F,Lazar V,Winnepenninckx V,Mansuet-Lupo A,Dessen P,van den Oord JJ,Spatz A,Sarasin A
Exact source Table 1: M- > M+
Related gene sets (show 3 additional gene sets from the source publication)

(show 16 gene sets from the same authors)
External links  
Filtered by similarity
Organism Homo sapiens
Contributed by Jessica Robertson (MSigDB Team)
Source platform HUMAN_GENE_SYMBOL
Dataset references (show 2 datasets)
Download gene set format: grp | text | gmt | gmx | xml
Compute overlaps (show collections to investigate for overlap with this gene set)
Compendia expression profiles GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 6 genes
Gene families Categorize these 6 genes by gene family
Show members (show 6 members mapped to 6 genes)
Version history  

See MSigDB license terms here. Please note that certain gene sets have special access terms.