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Genetic testing for hereditary prostate cancer: Current status and limitations
Jun Tu Zhen1,2, Jamil Syed2, Kevin Anh Nguyen2
1Frank H. Netter School of Medicine at Quinnipiac University, North Haven, Connecticut.
Cancer
|April 19, 2018
Summary
Hereditary prostate cancer is linked to specific gene mutations and family history. Genetic testing is crucial for understanding risk and guiding treatment decisions for prostate cancer.
Area of Science:
- Oncology
- Genetics
- Cancer Research
Background:
- A significant portion of prostate cancer cases have a hereditary basis.
- Specific gene alterations like BRCA1/2, MLH1, MSH2/6, PMS2, HOXB13, CHEK2, NBN, BRIP1, and ATM are linked to increased prostate cancer risk.
- Family history combined with single-gene polymorphisms elevates prostate cancer risk.
Purpose of the Study:
- To review the role of genetic counseling and testing in hereditary prostate cancer.
- To discuss challenges in insurance coverage for genetic testing.
- To explore available germline and somatic testing panels and their implications.
Main Methods:
- Review of current literature on hereditary prostate cancer genetics.
- Examination of next-generation sequencing technologies for multi-gene testing.
- Analysis of therapeutic implications of genetic testing results.
Main Results:
- No standardized guidelines exist for defining hereditary prostate cancer or for genetic testing protocols.
- Next-generation sequencing enables simultaneous testing of multiple genes.
- Genetic testing results are increasingly influencing therapeutic strategies, including the use of PARP inhibitors like olaparib for specific mutations.
Conclusions:
- Genetic testing plays a vital role in managing hereditary prostate cancer.
- Further research and guideline development are needed to standardize genetic testing and counseling.
- Advances in genetic technology are transforming treatment approaches for prostate cancer patients with hereditary risk factors.
Keywords:
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 testinggermline testinghomeobox B13 (HOXB13)mismatch repair (MMR)nibrin (NBN [Nijmegen breakage syndrome 1 (NBS1)])prostate cancersingle-nucleotide polymorphisms (SNPs)
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