Document Detail

Exploring the association between geneticvariation in the SUMO isopeptidase gene USPL1 and breast cancer through integration of data from the population-based GENICA study and external genetic databases.
MedLine Citation:
PMID:  23338788     Owner:  NLM     Status:  Publisher    
Small ubiquitin-like modifier (SUMO) proteins are covalently attached to target proteins to modify their function. SUMO conjugation participates in processes tightly linked to tumorigenesis. Recently USPL1 (ubiquitin-specific peptidase-like 1) was identified as a SUMO isopeptidase. We report here on the first exploratory study investigating the relationship betweengenetic variability inUSPL1andbreast cancer. Three potentially functional non-synonymouscoding SNPs (rs3742303, rs17609459, rs7984952) were genotyped in 1,021 breast cancer cases and 1,015 controls from the population based GENICA study. We took advantage of multiple genotype imputation based on HapMapand the 1000 Genomes Project data to refine the association screening in the investigated region. Public genetic databases were also used to investigate the relationship with USPL1 expression in lymphoblastoid cell lines and breast tissue.Women homozygous for the minor C allele of rs7984952 showed a lower risk of grade 3 breast tumors compared to TT homozygotes (OR 0.50, 95% CI 0.30-0.81). Case-only analyses confirmed the association between rs7984952 and tumor grade (OR 0.60, 95% CI 0.39-0.93). Imputation results in a 238 kb region around rs7984952 based on HapMap and the 1000 Genomes Project data were similar. No imputed variant showed an association signal stronger than rs7984952.USPL1 expression in tumor breast tissue increased with the number of C alleles.The present study illustrates the contribution of multiple imputation of genotypesusing public data repositories to standard genotyping laboratory. The provided information may facilitatethe design of independent studies to validate the association between USPL1 rs7984952 and risk of grade 3 breast tumors.
Justo Lorenzo Bermejo; Maria Kabisch; Thomas Dünnebier; Sven Schnaidt; Frauke Melchior; Hans-Peter Fischer; Volker Harth; Sylvia Rabstein; Beate Pesch; Thomas Brüning; Christina Justenhoven; Hiltrud Brauch; Christian Baisch; Yon-Dschun Ko; Ute Hamann
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-22
Journal Detail:
Title:  International journal of cancer. Journal international du cancer     Volume:  -     ISSN:  1097-0215     ISO Abbreviation:  Int. J. Cancer     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0042124     Medline TA:  Int J Cancer     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013 UICC.
Institute of Medical Biometry and Informatics (IMBI), University Hospital Heidelberg, Heidelberg, Germany.
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