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Genetics of Prostate Cancer (PDQ®)

  • Posted: 11/20/2003
  • Updated: 09/30/2014

Table 6. Inherited Variants Associated With Prostate Cancer Aggressiveness

Source of Associated Polymorphism  Variant Phenotype  Controls  Associated Allele/Genotype and Strength of Association Reference 
CI = confidence interval; GWAS = genome-wide association study; HR = hazard ratio; N- = lymph node–negative; N+ = lymph node–positive; OR = odds ratio; PSA = prostate-specific antigen; SNP = single nucleotide polymorphism.
Target gene – CASP8D302HPSA level >50 ng/mL or metastasis or Gleason 8–10 (n = 796)Men without prostate cancer (n = 2,060)H allele: OR, 0.67 (95% CI, 0.54–0.83)[221]
Target gene – CCL21181 A/GBiopsy Gleason >7 (n = 705)Biopsy Gleason ≤7 (n = 3,031)AA genotype: OR, 1.47 (95% CI, 1.08–2.01)[222]
Target gene – MDM2rs2279744 G/TBiopsy Gleason >7 (n = 1,028)Biopsy Gleason ≤7 (n = 645)TT genotype: OR, 1.51 (95% CI, 1.11–2.05)[163]
GWAS risk SNPrs2735839 A/GGleason ≥4+3 or T3b or N+ (n = 1,253)Gleason ≤4+3 and <T3b and N- (n = 4,233)A allele (more aggressive prostate cancer) and G allele (less aggressive prostate cancer): OR, 1.38 (95% CI, 1.21–1.56)[223]
Gleason ≥8 (n = 1,388)Gleason <8 (n = 7,549)A allele (more aggressive prostate cancer) and G allele (less aggressive prostate cancer): OR, 1.07 (95% CI, 0.95–1.19)[224]
Prostate cancer–specific death (n = 580)Nonprostate cancer death or survival at last follow-up (n = 3,365)A allele (more aggressive prostate cancer) and G allele (less aggressive prostate cancer): OR, 1.26 (95% CI, 1.05–1.52)[225]
Target gene – LEPRrs1137100 A/GProstate cancer–specific death (n = 501)Nonprostate cancer death or survival at last follow-up (n = 2,374)G allele: HR, 0.82 (95% CI, 0.67–1.00)[226]
Target gene – IL4rs2070874 C/TProstate cancer–specific death (n = 501)Nonprostate cancer death or survival at last follow-up (n = 2,374)T allele: HR, 1.27 (95% CI, 1.04–1.56)[226]
Target gene – CRY1rs10778534 C/TProstate cancer–specific death (n = 501)Nonprostate cancer death or survival at last follow-up (n = 2,374)C allele: HR, 1.23 (95% CI, 1.00–1.51)[226]

References

  1. Sun T, Lee GS, Oh WK, et al.: Single-nucleotide polymorphisms in p53 pathway and aggressiveness of prostate cancer in a Caucasian population. Clin Cancer Res 16 (21): 5244-51, 2010.  [PUBMED Abstract]

  2. Lubahn J, Berndt SI, Jin CH, et al.: Association of CASP8 D302H polymorphism with reduced risk of aggressive prostate carcinoma. Prostate 70 (6): 646-53, 2010.  [PUBMED Abstract]

  3. Sun T, Mary LG, Oh WK, et al.: Inherited variants in the chemokine CCL2 gene and prostate cancer aggressiveness in a Caucasian cohort. Clin Cancer Res 17 (6): 1546-52, 2011.  [PUBMED Abstract]

  4. Kader AK, Sun J, Isaacs SD, et al.: Individual and cumulative effect of prostate cancer risk-associated variants on clinicopathologic variables in 5,895 prostate cancer patients. Prostate 69 (11): 1195-205, 2009.  [PUBMED Abstract]

  5. Lindstrom S, Schumacher F, Siddiq A, et al.: Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3. PLoS One 6 (2): e17142, 2011.  [PUBMED Abstract]

  6. Pomerantz MM, Werner L, Xie W, et al.: Association of prostate cancer risk Loci with disease aggressiveness and prostate cancer-specific mortality. Cancer Prev Res (Phila) 4 (5): 719-28, 2011.  [PUBMED Abstract]

  7. Lin DW, FitzGerald LM, Fu R, et al.: Genetic variants in the LEPR, CRY1, RNASEL, IL4, and ARVCF genes are prognostic markers of prostate cancer-specific mortality. Cancer Epidemiol Biomarkers Prev 20 (9): 1928-36, 2011.  [PUBMED Abstract]