Several loci for hereditary prostate cancer have been mapped: HPC3 on chromosome 20q13, HPC4 on chromosome 7q11-q21, HPC4 on chromosome 3p26, HPC6 on chromosome 22q12, HPC7 on chromosome 15q12, and HPC9 on chromosome 17q21-q22. Strong association with multiple independent variants on chromosome 8q24 has been found and replicated HPC10. Polymorphisms in the HNF1B gene have been associated with susceptibility to prostate cancer HPC11 Additionally, loci on chromosomes 2p15, 10q11.2, 11q13, and 19q13.4 have been identified.
Somatic mutations in the PTEN gene, the MAD1L1 gene, the ATBF1 gene, and the PLXNB1 gene have been identified in prostate cancer tumors. The HUGO Nomenclature Committee assigned the symbol PRCA1 for hereditary prostate cancer that maps to 1q24-q25, Related the locus on 1q24-q25 to 2 germline mutations in the ribonuclease L gene. Loss of KLF6 function is also implicated in prostate cancer. Mutations in the gene encoding macrophage scavenger receptor-1 have been identified in both hereditary and nonhereditary prostate cancer. Mutations in the CHEK2 gene, which have been associated with non-p53-based Li-Fraumeni syndrome, have also been identified in hereditary and nonhereditary prostate cancer. Mutational inactivation of the EPHB2 gene has been implicated in the progression and metastasis of prostate cancer. A promoter polymorphism in the CDH1 gene has been associated with risk of hereditary prostate cancer.