{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:17:34Z","timestamp":1787066254574,"version":"build-2736575974"},"reference-count":35,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T00:00:00Z","timestamp":1738022400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Republic of Kazakhstan","award":["AP19680315"],"award-info":[{"award-number":["AP19680315"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Prostate cancer (PC) is one of the most common oncological diseases among men. Up to 20% of PC cases are associated with hereditary risks or syndromes. The impact of common variants, particularly EHBP1 c.1185+30064G&gt;A rs721048, on developing PC and other malignancies remains unclear. There are also no data on the frequency of this variant in the Kazakh population or its association with PC, nor its potential connection with other malignancies, particularly colorectal cancer (CRC). Methods: We utilized the TruSight Cancer Sequencing Panel to assess pathological genomic variants in 72 male patients with histologically verified aggressive PC and 119 patients of Kazakh nationality with histologically confirmed CRC compared to the control group. Results: A variant in the intron of the EHBP1 gene c.1185+30064G&gt;A rs721048 was identified in 18 patients (25%) out of 72 with PC, while in the control group of 41 healthy males, the rs721048 variant was found in only 4 (9.8%) individuals. In the CRC group, rs721048 was detected in 17 cases (14.2%) and eight control individuals (10%). Conclusions: The frequency of the EHBP1 c.1185+30064G&gt;A rs721048 variant in the PC group was significantly higher (p &lt; 0.05) than in healthy males of Kazakh nationality. Identifying EHBP1 c.1185+30064G&gt;A among the male population of Kazakhstan will help form the high-risk groups for PC to prevent the development of malignant neoplasms. The presence of rs721048 was not significantly associated with the risk of developing CRC in our study.<\/jats:p>","DOI":"10.3390\/genes16020171","type":"journal-article","created":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T06:47:29Z","timestamp":1738046849000},"page":"171","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The Relationship of the Pathogenic Variant rs721048 in the Intron of the EHBP1 Gene with the Development of Prostate Cancer and Colorectal Cancer in the Kazakh Population"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2557-8346","authenticated-orcid":false,"given":"Marina","family":"Romanova","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Genetics, RSE \u201cInstitute of Genetics and Physiology\u201d of the SC MSHE RK, Al-Farabi Ave., 93, Almaty 050060, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saltanat","family":"Abdikerim","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, RSE \u201cInstitute of Genetics and Physiology\u201d of the SC MSHE RK, Al-Farabi Ave., 93, Almaty 050060, Kazakhstan"},{"name":"Department of Molecular Biology and Genetics, Al-Farabi Kazakh National University, Almaty 050040, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaisar","family":"Dauyey","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, RSE \u201cInstitute of Genetics and Physiology\u201d of the SC MSHE RK, Al-Farabi Ave., 93, Almaty 050060, Kazakhstan"},{"name":"Department of Medicine, School of Medicine, Nazarbayev University, Astana 010000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziyo","family":"Gassanov","sequence":"additional","affiliation":[{"name":"Kazakh Institute of Oncology and Radiology, Almaty 050000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurlan","family":"Baltayev","sequence":"additional","affiliation":[{"name":"Almaty Oncology Centre, Almaty 050000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shyngys","family":"Satymbayev","sequence":"additional","affiliation":[{"name":"Almaty Oncology Centre, Almaty 050000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aigul","family":"Zhunussova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, RSE \u201cInstitute of Genetics and Physiology\u201d of the SC MSHE RK, Al-Farabi Ave., 93, Almaty 050060, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0969-5983","authenticated-orcid":false,"given":"Dilyara","family":"Kaidarova","sequence":"additional","affiliation":[{"name":"Kazakh Institute of Oncology and Radiology, Almaty 050000, Kazakhstan"},{"name":"Oncology Department, Asfendiyarov Kazakh National Medical University, Almaty 050000, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulnur","family":"Zhunussova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, RSE \u201cInstitute of Genetics and Physiology\u201d of the SC MSHE RK, Al-Farabi Ave., 93, Almaty 050060, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1683","DOI":"10.1016\/S0140-6736(24)00651-2","article-title":"The Lancet Commission on Prostate Cancer: Planning for the Surge in Cases","volume":"403","author":"James","year":"2024","journal-title":"Lancet Lond. 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