Genetic Variation in the NBS1, MRE11, RAD50 and BLM Genes and Susceptibility to Non-Hodgkin Lymphoma

Resource type
Date created
Background: Translocations are hallmarks of non-Hodgkin lymphoma (NHL) genomes. Becauselymphoid cell development processes require the creation and repair of double stranded breaks, itis not surprising that disruption of this type of DNA repair can cause cancer. The members of theMRE11-RAD50-NBS1 (MRN) complex and BLM have central roles in maintenance of DNA integrity.Severe mutations in any of these genes cause genetic disorders, some of which are characterizedby increased risk of lymphoma.Methods: We surveyed the genetic variation in these genes in constitutional DNA of NHLpatients by means of gene re-sequencing, then conducted genetic association tests for susceptibilityto NHL in a population-based collection of 797 NHL cases and 793 controls.Results: 114 SNPs were discovered in our sequenced samples, 61% of which were novel and notpreviously reported in dbSNP. Although four variants, two in RAD50 and two in NBS1, showedassociation results suggestive of an effect on NHL, they were not significant after correction formultiple tests.Conclusion: These results suggest an influence of RAD50 and NBS1 on susceptibility to diffuselarge B-cell lymphoma and marginal zone lymphoma. Larger association and functional studies couldconfirm such a role.
Published as
BMC Medical Genetics 2009, 10:117 doi:10.1186/1471-2350-10-117
Publication title
BMC Medical Genetics
Document title
Genetic Variation in the NBS1, MRE11, RAD50 and BLM Genes and Susceptibility to Non-Hodgkin Lymphoma
Publisher DOI
Copyright statement
Copyright is held by the author(s).
You are free to copy, distribute and transmit this work under the following conditions: You must give attribution to the work (but not in any way that suggests that the author endorses you or your use of the work); You may not use this work for commercial purposes.
Scholarly level
Peer reviewed?
Attachment Size
1471-2350-10-117.pdf 317.19 KB