{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T18:51:52Z","timestamp":1776883912061,"version":"3.51.2"},"reference-count":31,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T00:00:00Z","timestamp":1695686400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Multiple polyposes are heterogeneous diseases with different underlying molecular backgrounds, sharing a common symptom: the presence of transforming into cancerous intestinal polyps. Recent reports have indicated biallelic mutations in the NTHL1 gene, which is involved in base excision repair (BER), as predisposing to an elevated risk of colorectal cancer (CRC). We aimed to evaluate the significance of the p.Q82* truncating variant in predisposition to intestinal polyposis by assessing its frequency in polyposis patients. We genotyped 644 Polish patients and 634 control DNA samples using high-resolution melting analysis (HRM) and Sanger sequencing. We found the p.Q82* variant in four polyposis patients; in three, it was homozygous (OR = 6.90, p value = 0.202). Moreover, the p.R92C mutation was detected in one patient. We also looked more closely at the disease course in patients carrying NTHL1 mutations. Two homozygous patients also presented other neoplasia. In the family case, we noticed the earlier presence of polyps in the proband and early hepatoblastoma in his brother. We cannot univocally confirm the relationship of p.Q82* with an increased risk of CRC. However, homozygous p.Q82* was more frequent by 10-fold in patients without other mutations identified, which makes NTHL1 gene screening in this group reasonable.<\/jats:p>","DOI":"10.3390\/ijms241914548","type":"journal-article","created":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T03:45:23Z","timestamp":1695699923000},"page":"14548","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["NTHL1 Gene Mutations in Polish Polyposis Patients\u2014Weighty Player or Vague Background?"],"prefix":"10.3390","volume":"24","author":[{"given":"Natalia","family":"Grot","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Strzeszy\u0144ska 32, 60-479 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0173-5431","authenticated-orcid":false,"given":"Marta","family":"Kaczmarek-Ry\u015b","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Strzeszy\u0144ska 32, 60-479 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1690-9433","authenticated-orcid":false,"given":"Emilia","family":"Lis-Tana\u015b","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Strzeszy\u0144ska 32, 60-479 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6898-0127","authenticated-orcid":false,"given":"Alicja","family":"Kryszczy\u0144ska","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Strzeszy\u0144ska 32, 60-479 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Nowakowska","sequence":"additional","affiliation":[{"name":"Cancer Genetics Unit, Cancer Prevention Department, The Maria Sklodowska-Curie National Research Institute of Oncology in Warsaw, 02-781 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Jakubiuk-Tomaszuk","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Medical University of Bialystok, 15-089 Bialystok, Poland"},{"name":"Medical Genetics Unit, Mastermed Medical Center, 15-089 Bialystok, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacek","family":"Paszkowski","sequence":"additional","affiliation":[{"name":"Department of General and Endocrine Surgery and Gastroenterological Oncology, Pozna\u0144 University of Medical Sciences, Przybyszewskiego 49, 60-355 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Banasiewicz","sequence":"additional","affiliation":[{"name":"Department of General and Endocrine Surgery and Gastroenterological Oncology, Pozna\u0144 University of Medical Sciences, Przybyszewskiego 49, 60-355 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4388-286X","authenticated-orcid":false,"given":"Szymon","family":"Hryhorowicz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Strzeszy\u0144ska 32, 60-479 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0534-8941","authenticated-orcid":false,"given":"Andrzej","family":"P\u0142awski","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Polish Academy of Sciences, Strzeszy\u0144ska 32, 60-479 Pozna\u0144, Poland"},{"name":"Department of General and Endocrine Surgery and Gastroenterological Oncology, Pozna\u0144 University of Medical Sciences, Przybyszewskiego 49, 60-355 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"101174","DOI":"10.1016\/j.tranon.2021.101174","article-title":"Global colorectal cancer burden in 2020 and projections to 2040","volume":"14","author":"Xi","year":"2021","journal-title":"Transl. 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