RGD Reference Report - Double strand break repair components are frequent targets of microsatellite instability in endometrial cancer. - Rat Genome Database

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Double strand break repair components are frequent targets of microsatellite instability in endometrial cancer.

Authors: Bilbao, C  Ramirez, R  Rodriguez, G  Falcon, O  Leon, L  Diaz-Chico, N  Perucho, M  Diaz-Chico, JC 
Citation: Bilbao C, etal., Eur J Cancer. 2010 Oct;46(15):2821-7. doi: 10.1016/j.ejca.2010.06.116. Epub 2010 Jul 16.
RGD ID: 9589018
Pubmed: PMID:20638839   (View Abstract at PubMed)
DOI: DOI:10.1016/j.ejca.2010.06.116   (Journal Full-text)

AIM: DNA double strand break (DSB) repair is a central cellular mechanism of the DNA damage response to maintain genomic stability. DSB components are frequently mutated in colorectal cancer with microsatellite instability (MSI). We investigated whether DSB repair is involved in endometrial cancer (EC) with MSI. METHODS: Mononucleotide microsatellite tracts of 14 genes of the DSB repair system were analysed in a series of 41 EC with MSI. Among these genes, the microcephalin 1 (MCPH1/BRIT1) has never been tested as target of MSI in tumour series. RESULTS: The most frequently mutated gene was DNAPKcs (n=14, 34%) followed by RAD50 (n=7, 17%), MRE11, ATR and BRCA1 (n=6, 15%), and by CtIP and MCPH1 (n=5, 12%). While DSB biallelic mutations were infrequent, a high proportion of tumours (n=30, 73%) presented mutations at some component of the DSB repair pathway, and almost half of them showed alterations at two or more components. Tumours with mutations in two or more genes were significantly associated with advanced grade (p=0.03) and vascular invasion (p=0.02) and marginally associated with advanced stage (p=0.07). CONCLUSIONS: Our results suggest that in EC, the DSB repair is a relatively common mutational target of MSI and might contribute to tumour progression, and also that MCHP1 may be a novel target gene of MSI.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MCPH1Humanendometrial cancer  IAGP DNA:deletions:exons:multiple (human)RGD 
Mcph1Mouseendometrial cancer  ISOMCPH1 (Homo sapiens)DNA:deletions:exons:multiple (human)RGD 
Mcph1Ratendometrial cancer  ISOMCPH1 (Homo sapiens)DNA:deletions:exons:multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mcph1  (microcephalin 1)

Genes (Mus musculus)
Mcph1  (microcephaly, primary autosomal recessive 1)

Genes (Homo sapiens)
MCPH1  (microcephalin 1)


Additional Information