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Genetics of Prostate Cancer (PDQ®)

  • Posted: 11/20/2003
  • Updated: 02/15/2013

Table 8. Candidate Genes for Prostate Cancer Susceptibility

Gene  Location Clinical Testing Proposed Phenotype Comments  
HPC = hereditary prostate cancer; MMR = mismatch repair; OMIM = Online Mendelian Inheritance in Man.
AMACR (OMIM) [123-125]5p13.2Not availableUnknown
BRCA1 (OMIM) [136-146]17q21AvailableYounger age at prostate cancer diagnosis (<65 y); earlier age at diagnosis among carriers of Ashkenazi founder mutationsThere is some evidence that men with a BRCA1 mutation may develop prostate cancer at an earlier age.
BRCA2 (OMIM) [138-142,144,145,147-152]13q12-13AvailableYounger age at prostate cancer diagnosis (<65 y); earlier age at diagnosis among carriers of Ashkenazi founder mutationsEvidence for an increase in prostate cancer risk is stronger for BRCA2 than BRCA1. Individuals with BRCA2-related prostate cancer have significantly worse survival rates than noncarriers due to higher Gleason scores and more advanced tumor stage at diagnosis. Prostate cancer risk may be lower among men with a mutation in the central region of the BRCA2 gene.
CHEK2 (OMIM) [131,133,134]22q12.1AvailableUnknownValue of clinical testing for mutations in CHEK2 for prostate cancer risk is not established.
ELAC2/HPC2 (OMIM) [31,153-158]17pNot availableUnknownInfrequent deleterious mutations identified in HPC families in follow-up reports.
HOXB13 (OMIM) [159]17q21Not availableYounger age at prostate cancer diagnosis (≤55 y) and a positive family history of prostate cancer
KLF6 (OMIM) [119-122,160]10p15Not availableYounger age at prostate cancer diagnosis (<65 y)
MMR Genes: MLH1 (OMIM), MSH2 (OMIM), MSH6 (OMIM), or PMS2 (OMIM) [161,162]3p21.3, 2p22-p21, 2p16, 7p22AvailableUnknownProstate cancers due to MMR gene mutations have been shown to have evidence of microsatellite instability.
MSR1 (OMIM) [31,59,60,65,122]8p22Not availableUnknownIn a genomic region commonly deleted in prostate cancer.
NBS1 (OMIM) [126,130]8q21AvailableIncreased prostate cancer risk in heterozygotesInfrequent NBS1 mutations, including founder 657del5 variant, in follow-up study.

References

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