Quantitative and structural genetic alterations cause the development and progression of
prostate cancer. A number of genes have been implicated in
prostate cancer by genetic alterations and functional consequences of the genetic alterations. These include the ELAC2 (HPC2), MSR1, and RNASEL (HPC1) genes that have germline mutations in
familial prostate cancer; AR, ATBF1, EPHB2 (ERK), KLF6, mitochondria
DNA, p53, PTEN, and RAS that have somatic mutations in sporadic
prostate cancer; AR, BRCA1, BRCA2, CHEK2 (RAD53),
CYP17, CYP1B1,
CYP3A4, GSTM1, GSTP1, GSTT1, PON1, SRD5A2, and VDR that have germline genetic variants associated with either hereditary and/or sporadic
prostate cancer; and ANXA7 (ANX7), KLF5, NKX3-1 (NKX3.1), CDKN1B (p27), and MYC that have genomic copy number changes affecting gene function. More genes relevant to
prostate cancer remain to be identified in each of these gene groups. For the genes that have been identified, most need additional genetic, functional, and/or biochemical examination. Identification and characterization of these genes will be a key step for improving the detection and treatment of
prostate cancer.