{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T17:54:40Z","timestamp":1771955680678,"version":"3.50.1"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T00:00:00Z","timestamp":1713139200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T00:00:00Z","timestamp":1713139200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Genome-wide association studies have identified more than 290 single nucleotide variants (SNVs) associated with prostate cancer. These SNVs can be combined to generate a Polygenic Risk Score (PRS), which estimates an individual\u2019s risk to develop prostate cancer. Identifying individuals at higher risk for prostate cancer using PRS could allow for personalized screening recommendations, improve current screening tools, and potentially result in improved survival rates, but more research is needed before incorporating them into clinical use. Our study aimed to investigate associations between PRS and clinical factors in affected individuals, including age of diagnosis, metastases, histology, International Society of Urological Pathology (ISUP) Grade Group (GG) and family history of prostate cancer, while taking into account germline genetic testing in known prostate cancer related genes. To evaluate the relationship between these clinical factors and PRS, a quantitative retrospective chart review of 250 individuals of European ancestry diagnosed with prostate cancer who received genetic counseling services at The Ohio State University\u2019s Genitourinary Cancer Genetics Clinic and a 72-SNV PRS through Ambry Genetics, was performed. We found significant associations between higher PRS and younger age of diagnosis (p\u2009=\u20090.002), lower frequency of metastases (p\u2009=\u20090.006), and having a first-degree relative diagnosed with prostate cancer (p\u2009=\u20090.024). We did not observe significant associations between PRS and ISUP GG, histology or a having a second-degree relative with prostate cancer. These findings provide insights into features associated with higher PRS, but larger multi-ancestral studies using PRS that are informative across populations are needed to understand its clinical utility.<\/jats:p>","DOI":"10.1007\/s10689-024-00369-0","type":"journal-article","created":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T08:01:56Z","timestamp":1713168116000},"page":"499-505","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical features of prostate cancer by polygenic risk score"],"prefix":"10.1007","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-7100-9451","authenticated-orcid":false,"given":"Christina","family":"Spears","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7895-0733","authenticated-orcid":false,"given":"Menglin","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abigail","family":"Shoben","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shawn","family":"Dason","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0271-1792","authenticated-orcid":false,"given":"Amanda Ewart","family":"Toland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lindsey","family":"Byrne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,4,15]]},"reference":[{"key":"369_CR1","unstructured":"American Cancer Society (2023) Facts & Figures 2023. American Cancer Society, Atlanta. https:\/\/www.cancer.org\/cancer\/types\/prostate-cancer\/about\/key-statistics.html#:~:text=Other%20than%20skin%20cancer%2C%20prostate,34%2C700%20deaths%20from%20prostate%20cancer"},{"issue":"5","key":"369_CR2","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1056\/NEJMoa1603144","volume":"375","author":"CC Pritchard","year":"2016","unstructured":"Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME et al (2016) Inherited DNA-repair gene mutations in men with metastatic prostate cancer. N Engl J Med 375(5):443\u2013453. https:\/\/doi.org\/10.1056\/NEJMoa1603144","journal-title":"N Engl J Med"},{"issue":"4","key":"369_CR3","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1001\/jamaoncol.2018.6760","volume":"5","author":"P Nicolosi","year":"2019","unstructured":"Nicolosi P, Ledet E, Yang S, Michalski S, Freschi B, O\u2019Leary E, Esplin ED, Nussbaum RL, Sartor O (2019) Prevalence of germline variants in prostate cancer and implications for current genetic testing guidelines. JAMA Oncol 5(4):523\u2013528. https:\/\/doi.org\/10.1001\/jamaoncol.2018.6760","journal-title":"JAMA Oncol"},{"issue":"2","key":"369_CR4","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1093\/jnci\/djac199","volume":"115","author":"MS Pagadala","year":"2023","unstructured":"Pagadala MS, Lynch J, Karunamuni R, Alba PR, Lee KM, Agiri FY, Anglin T, Carter H, Gaziano JM, Jasuja GK, Deka R, Rose BS, Panizzon MS, Hauger RL, Seibert TM (2023) Polygenic risk of any, metastatic, and fatal prostate cancer in the Million Veteran Program. 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Genome Med 12:44. https:\/\/doi.org\/10.1186\/s13073-020-00742-5","journal-title":"Genome Med"},{"issue":"3","key":"369_CR7","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1111\/bju.15535","volume":"129","author":"S Benafif","year":"2022","unstructured":"Benafif S, Ni Raghallaigh H, McGrowder E, Saunders EJ, Brook MN, Saya S, Rageevakumar R, Wakerell S, James D, Chamberlain A, Taylor N, Hogben M, Benton B, D\u2019Mello L, Myhill K, Mikropoulos C, Bowen-Perkins H, Rafi I, Ferris M, Beattie A et al (2022) The BARCODE1 Pilot: a feasibility study of using germline single nucleotide polymorphisms to target prostate cancer screening. BJU Int 129(3):325\u2013336. https:\/\/doi.org\/10.1111\/bju.15535","journal-title":"BJU Int"},{"issue":"22","key":"369_CR8","doi-asserted-by":"publisher","first-page":"4926","DOI":"10.1158\/1078-0432.CCR-22-1723","volume":"28","author":"A Plym","year":"2022","unstructured":"Plym A, Zhang Y, Stopsack KH, Jee YH, Wiklund F, Kibel AS, Kraft P, Giovannucci E, Penney KL, Mucci LA (2022) Family history of prostate and breast cancer integrated with a polygenic risk score identifies men at highest risk of dying from prostate cancer before age 75 years. Clin Cancer Res 28(22):4926\u20134933. https:\/\/doi.org\/10.1158\/1078-0432.CCR-22-1723","journal-title":"Clin Cancer Res"},{"issue":"1","key":"369_CR9","doi-asserted-by":"publisher","first-page":"17075","DOI":"10.1038\/s41598-020-74172-z","volume":"10","author":"C Sipeky","year":"2020","unstructured":"Sipeky C, Talala KM, Tammela T, Taari K, Auvinen A, Schleutker J (2020) Prostate cancer risk prediction using a polygenic risk score. 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The additional authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest or non-financial interest in the subject matter or materials discussed in this manuscript.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}