Human Gene Set: BIOCARTA_ATRBRCA_PATHWAY

For the Mouse gene set with the same name, see BIOCARTA_ATRBRCA_PATHWAY

Standard name BIOCARTA_ATRBRCA_PATHWAY
Systematic name M9703
Brief description Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility
Full description or abstract BRCA1 and BRCA2 were identified genetically as breast cancer susceptibility genes when a single copy of the gene is mutated and are involved in the cellular response to DNA damage, including blocking cell cycle progression and inducing DNA repair to preserve the integrity of the genome during cell division. BRCA1 and BRCA2 induce double-stranded repair of breaks using homologous recombination, in part through activation of RAD51. BRCA1 acts as a ubiquitin ligase targeting the protein FancD2 that activates checkpoint control, integrating the ATM response to ionizing radiation and the FA response to cross-linking agents like mitomycin C. Mutation of one of the several components of the FA complex involved in maintaining integrity of the genome leads to the condition Fanconi anemia. One member of the FA complex was recently identified as BRCA2, which leads to Fanconi anemia when both copies of the gene are mutated. Another related factor involved in the response of cells to DNA damage is the kinase ATM. ATM is mutated in patients with AT, a condition with many similar traits to Fanconi anemia. Like ATM, ATR serves as a checkpoint kinase that halts cell cycle progression and induces DNA repair when DNA is damaged. Loss of ATR results in a loss of checkpoint control in response to DNA damage, leading to cell death, and deletion of the ATR gene in mice is embryonic lethal. ATRIP is a protein that interacts with ATR and is a substrate for its kinase activity. ATRIP is required for ATR function, and removal of ATRIP also leads to a loss of checkpoint control of the cell cycle. ATR and ATM kinase targets include repair enzymes like Rad51, and the checkpoint kinases Chk1 and Chk2, as well as BRCA1 and BRCA2. The close relationship of the genes involved in breast cancer and Fanconi anemia has helped illuminate this signaling system, and may help lead to improved understanding and treatment of these conditions.
Collection C2: Curated
      CP: Canonical Pathways
            CP:BIOCARTA: BioCarta Pathways
Source publication  
Exact source  
Related gene sets  
External links https://data.broadinstitute.org/gsea-msigdb/msigdb/biocarta/human/h_atrbrcaPathway.gif
Filtered by similarity ?
Source species Homo sapiens
Contributed by BioCarta
Source platform or
identifier namespace
HUMAN_SEQ_ACCESSION
Dataset references  
Download gene set format: grp | gmt | xml | json | TSV metadata
Compute overlaps ? (show collections to investigate for overlap with this gene set)
Compendia expression profiles ? NG-CHM interactive heatmaps
(Please note that clustering takes a few seconds)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)

Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 22 genes
Gene families ? Categorize these 22 genes by gene family
Show members (show 63 source identifiers mapped to 22 genes)
Version history 7.0: Changed members. Upgraded to final version of Biocarta.

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