title: Prognostic relevance of acquired uniparental disomy in serous ovarian cancer.
abstract: BACKGROUND
  Acquired uniparental disomy (aUPD) can lead to homozygosity for tumor suppressor genes or oncogenes. Our purpose is to determine the frequency and profile aUPD regions in serous ovarian cancer (SOC) and investigated the association of aUPD with clinical features and patient outcomes.
  
  
  METHODS
  We analyzed single nucleotide polymorphism (SNP) array-based genotyping data on 532 SOC specimens from The Cancer Genome Atlas database to identify aUPD regions. Cox univariate regression and Cox multivariate proportional hazards analyses were performed for survival analysis.
  
  
  RESULTS
  We found that 94.7% of SOC samples harbored aUPD; the most common aUPD regions were in chromosomes 17q (76.7%), 17p (39.7%), and 13q (38.3%). In Cox univariate regression analysis, two independent regions of aUPD on chromosome 17q (A and C), and whole-chromosome aUPD were associated with shorter overall survival (OS), and five regions on chromosome 17q (A, D-G) and BRCA1 were associated with recurrence-free survival time. In Cox multivariable proportional hazards analysis, whole-chromosome aUPD was associated with shorter OS. One region of aUPD on chromosome 22q (B) was associated with unilateral disease. A statistically significant association was found between aUPD at TP53 loci and homozygous mutation of TP53 (p < 0.0001).
  
  
  CONCLUSIONS
  aUPD is a common event and some recurrent loci are associated with a poor outcome for patients with serous ovarian cancer.
authors: Departments of Epidemiology, Unit 1340, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030-4009, USA. mtuna9@gmail.com.
authors: Musaffe
authors: M
authors: Tuna
authors: Departments of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. zju@mdanderson.org.
authors: Zhenlin
authors: Z
authors: Ju
authors: Department of Medical Oncology, Erasmus Medical Center - Daniel den Hoed Cancer Center, and Cancer Genomics Center, Rotterdam, The Netherlands. m.smid@erasmusmc.nl.
authors: Marcel
authors: M
authors: Smid
authors: Departments of Epidemiology, Unit 1340, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX, 77030-4009, USA. Christopher.I.Amos@dartmouth.edu.
authors: Christopher I
authors: CI
authors: Amos
authors: Departments of Systems Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA. gmills@mdanderson.org.
authors: Gordon B
authors: GB
authors: Mills
mesh_terms: D000328:Adult; D000368:Aged; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D018284:Cystadenocarcinoma, Serous / Q000188:drug therapy / Q000235:genetics* / Q000401:mortality* / Q000473:pathology; D066264:Datasets as Topic; D019008:Drug Resistance, Neoplasm; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D008875:Middle Aged; D060787:Neoplasm Grading; D009367:Neoplasm Staging; D010051:Ovarian Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000401:mortality* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D024182:Uniparental Disomy / Q000235:genetics*
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