5 always detect all genetic variations in the genes screened for. In addition, there is also the possibility of detecting a gene variant of uncertain signicance (VUS). A VUS is a rare variation in the genetic code for which too little information is available on how it impacts the function of the gene. These variants can either be normal non-cancer-causing or cancercausing. Further studies are usually needed to classify a VUS. A genetic counsellor assists in variant classication, the accurate interpretation of the genetic test results and guiding the individual through an uncertain result. Genetic counsellors use the genetic test results in combination with the individual's personal and family history to do a personalised cancer risk assessment and offer advice on the most appropriate cancer risk management options. If appropriate, they also coordinate genetic testing and determine the risks for the individual's family members. Receiving a positive genetic test result and/or diagnosis of an inherited cancer syndrome may illicit unwanted emotions and cause anxiety about the future. It may also lead to concerns related to the individual's family. These psychosocial concerns are addressed by genetic counsellors who provide additional avenues of support to promote adaptation to the implications of an inherited cancer syndrome. In summary, genetic testing holds tremendous potential in prostate cancer management. Given its intricacies and far-reaching implications, genetic counselling is an indispensable companion in this journey for the following reasons: • Guided test selection: Genetic counsellors aid in selecting the most appropriate tests tailored to the individual's unique situation. • Precision in interpretation: Genetic test results can be complex, but with a genetic counsellor's expertise, there's a reduced risk of misinterpretation, minimising anxiety or false reassurance. • Tailored cancer management: With their guidance, the most effective and personalised cancer management plan can be crafted, optimising treatment outcomes. This partnership extends beyond the individual to their family members, ensuring that the right surveillance is in place to mitigate the risk of advanced stage prostate cancer and other gene-related cancers. By providing this support, genetic counselling not only enhances peace of mind, but also safeguards the well-being of both the individual and their loved ones. Box 1: International guidelines for prostate cancer genetic testing National Comprehensive Cancer Network (NCCN) Version 4.2023 The following men should be offered genetic testing. Men with: • Metastatic, regional (node positive), very-highrisk localised, or high-risk localised prostate cancer or intermediate risk prostate cancer with intraductal/cribriform histology, regardless of age • One or more rst-, second- or third-degree relatives with breast, colorectal or endometrial cancer younger than 50 years and/or male breast, ovarian, pancreatic at any age. • One rst-, second- or third-degree relatives with metastatic, regional, very-high risk, or high-risk prostate cancer at any age • One or more rst-degree relative with prostate cancer at age 60 years or younger • Two or more rst-, second- or third-degree relatives with breast or prostate cancer at any age • Three or more rst- or second-degree relatives with Lynch syndrome cancers, especially if diagnosed younger than the age of 50 years • A known family history of familial risk mutation (pathogenic/likely pathogenic variants) • Ashkenazi Jewish ancestry • Personal history of breast, pancreatic, colorectal, gastric, melanoma, upper tract urothelial, glioblastoma, biliary tract and small intestinal cancer European Association of Urology (EAU) 2023: Germline genetic testing should be considered in men with: • Personal or family history of prostate cancer or other types arising from DNA repair gene mutations • Metastatic prostate cancer • High-risk prostate cancer and a family members diagnosed with prostate cancer at age younger than 60 years • Multiple family members diagnosed with clinically prostate cancer at age younger than 60 years or a family member who died from prostate cancer • A family history of high-risk germline mutations or a family history of multiple cancers on the same side of the family Bibliography 1. Giri, VN, Morgan, TM, Morris, DS. et al. Genetic testing in prostate cancer management: Considerations informing primary care. CA Cancer J Clin. 2022. https://doi.org/10.3322/caac.21720. 2. Mottet, N et al. EAU guidelines: Prostate cancer. EAU. https://uroweb.org/guideline/prostatecancer. 3. National Comprehensive Cancer Network. Clinical Guidelines in Oncology (NCCN Guidelines ): Prostate Cancer. Version 4.2023. ® NCCN https://www.nccn.org/ guidelines/guidelinesdetail?category=1&id=1459. 4. Russo, J, Giri VN. Germline testing and genetic counselling in prostate cancer. Nat Rev Urol. 2022 Jun;19(6):331-343. doi: 10.1038/s41585-022-00580-7. Epub 2022 Apr 21. PMID: 35449224; PMCID: PMC9022414. 5. South African National Cancer Registry data of 2020. https://www.nicd.ac.za/centres/national-cancerregistry/cancer-statistics/. 6. Tuffaha, H, Edmunds, K, Fairbairn, D et al. Guidelines for genetic testing in prostate cancer: a scoping review. Prostate Cancer Prostatic Dis. 2023. https://doi.org/10.1038/s41391-023-00676-0. 7. Vietri MT, D'Elia G, Caliendo G, Resse M, Casamassimi A, Passariello L, Albanese L, Ciof M, Molinari AM. Hereditary Prostate Cancer: Genes Related, Target Therapy and Prevention. Int J Mol Sci. 2021 Apr 4;22(7):3753. doi: 10.3390/ijms22073753. PMID: 33916521; PMCID: PMC8038462 UROLOGY, URO-ONCOLOGY AND SEXOLOGY UPDATE
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