Send to

Choose Destination
Cancer. 2018 Aug 1;124(15):3105-3117. doi: 10.1002/cncr.31316. Epub 2018 Apr 18.

Genetic testing for hereditary prostate cancer: Current status and limitations.

Author information

Frank H. Netter School of Medicine at Quinnipiac University, North Haven, Connecticut.
Department of Urology, Yale School of Medicine, New Haven, Connecticut.
Huntsman Cancer Center, University of Utah School of Medicine, Salt Lake City, Utah.
Cancer Genetics and Prevention Program, Smilow Cancer Center, Yale School of Medicine, New Haven, Connecticut.


A significant proportion of prostate cancer diagnoses may be associated with a strong hereditary component. Men who have multiple single-gene polymorphisms and a family history of prostate cancer have a significantly greater risk of developing prostate cancer. Numerous single-gene alterations have been confirmed to increase the risk of prostate cancer. These include breast cancer genes 1 and 2 (BRCA1 and BRCA2, respectively), mutL homolog 1 (MLH1), mutS homologs 2 and 6 (MSH2 and MSH6, respectively), postmeiotic segregation increased 2 (PMS2), homeobox B13 (HOXB13), checkpoint kinase 2 (CHEK2), nibrin (NBN), BRCA1-interacting protein C-terminal helicase 1 (BRIP1), and ataxia telangiectasia mutated (ATM). Currently, there are no uniform guidelines on the definition of hereditary prostate cancer and genetic testing. With the advent of next-generation sequencing, which is capable of testing multiple genes simultaneously, and the approval of olaparib for BRCA1/BRCA2 or ATM-mutated, metastatic, castrate-resistant prostate cancer, it is being recognized that the results of genetic testing have an impact on therapeutic strategies. In this review, the authors examine the role of genetic counseling and testing, the challenges of insurance coverage for testing, the available germline and somatic testing panels, and the complexity of each testing method and its implications. Cancer 2018.


ataxia telangiectasia mutated (ATM); breast cancer 1 interacting protein C-terminal helicase 1 (BRIP1); breast cancer genes 1 and 2 (BRCA1/BRCA2); checkpoint kinase 2 (CHEK2); genetic testing; germline testing; homeobox B13 (HOXB13); mismatch repair (MMR); nibrin (NBN [Nijmegen breakage syndrome 1 (NBS1)]); prostate cancer; single-nucleotide polymorphisms (SNPs)

[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center