RGD Reference Report - Mutations in the RAD54 recombination gene in primary cancers. - Rat Genome Database

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Mutations in the RAD54 recombination gene in primary cancers.

Authors: Matsuda, M  Miyagawa, K  Takahashi, M  Fukuda, T  Kataoka, T  Asahara, T  Inui, H  Watatani, M  Yasutomi, M  Kamada, N  Dohi, K  Kamiya, K 
Citation: Matsuda M, etal., Oncogene. 1999 Jun 3;18(22):3427-30.
RGD ID: 1599748
Pubmed: PMID:10362365   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.onc.1202692   (Journal Full-text)

Association of a recombinational repair protein RAD51 with tumor suppressors BRCA1 and BRCA2 suggests that defects in homologous recombination are responsible for tumor formation. Also recent findings that a protein associated with the MRE11/RAD50 repair complex is mutated in Nijmegen breakage syndrome characterized by increased cancer incidence and ionizing radiation sensitivity strongly support this idea. However, the direct roles of BRCA proteins and the protein responsible for NBS in recombinational repair are not clear though they are associated with the recombinational repair complexes. Since RAD51 forms a complex with other members of the RAD52 epistasis group and with BRCA proteins, it is reasonable to ask if alterations of members of the RAD52 epistasis group lead to tumor development. Here we describe missense mutations at functional regions of RAD54 and the absence of the wild-type RAD54 expression resulting from aberrant splicing in primary cancers. Since RAD54 is a recombinational protein associated with RAD51, this is the first genetic evidence that cancer arises from a defect in repair processes involving homologous recombination.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
RAD54LHumandisease of cellular proliferation  IAGP  RGD 
Rad54lRatdisease of cellular proliferation  ISORAD54L (Homo sapiens) RGD 
Rad54lMousedisease of cellular proliferation  ISORAD54L (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Rad54l  (RAD54 like)

Genes (Mus musculus)
Rad54l  (RAD54 like (S. cerevisiae))

Genes (Homo sapiens)
RAD54L  (RAD54 like)


Additional Information