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Genetic variant of the human homologous recombination-asociated gene RM11 (S¤%%N) impacts the risk of AML/MDS and malignant melanoma

Publiceringsår: 2007
Språk: Engelska
Sidor: 38-44
Publikation/Tidskrift/Serie: Cancer Letters
Volym: 258
Nummer: 1
Dokumenttyp: Artikel


The newly identified protein BLAP75/RMI1 associates with the helicase BLM and is critical for the function of the homologous recombination complex. Mutations altering BLM function are associated with highly elevated cancer susceptibility (Bloom's syndrome). We have analyzed the common polymorphism Ser455Asn in RMI1 and its association with cancer risk in acute myeloid leukemia (AML, N=93), myelodysplatic syndromes (MDS, N=74), and malignant melanoma (MM, N=166). Two control groups were used: one population-based (N=119) and one recruited from spouses of cancer patients (N=189). The results showed a consistent pattern, where carriers of the Asn variant had a significantly increased risk of AML/MDS. The risk of AML/MDS for SerAsn+AsnAsn subjects was odds ratio (OR)=1.7, 95% confidence interval (CI) 1.1-2.5 or MM was OR=1.5, 95% CI 1.0-2.2. Age might modify the effect of RMI1 on cancer risk. This was most evident for MM: AsnAsn homozygotes > or =64 years showed OR=2.7, 95% CI 1.1-6.0, whereas individuals <64 years showed OR=0.87, 95% CI 0.31-2.5. These results indicate a role of low-penetrance genes involved in BLM-associated homologous recombination for cancer risk.



  • Medicine and Health Sciences
  • Genetic *RecQ Helicases *Recombination
  • Acute/genetics* *Male *Melanoma/genetics* *Middle Aged *Myelodysplastic Syndromes/genetics* *Nuclear Proteins/genetics* *Polymerase Chain Reaction *Polymorphism
  • Myeloid
  • *Adenosine Triphosphatases/genetics *Adult *Aged *Aged
  • 80 and over *Bloom Syndrome/genetics *Carrier Proteins/genetics* *Case-Control Studies *DNA Helicases/genetics *Female *Genetic Variation* *Genotype *Humans *Leukemia
  • Genetic* *Skin Neoplasms/genetics*



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