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The study evaluates whether the p.Q82* truncating variant in NTHL1, a gene involved in base excision repair, contributes to predisposition to colorectal cancer in Polish polyposis patients. High-resolution melting and Sanger sequencing were applied to 644 patients and 634 controls. The variant was found in four patients, mostly homozygous, but the CRC link could not be confirmed.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/nthl1-gene-mutations-in-polish-polyposis-patients-weighty-player-or-vague-background/377294/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/nthl1-gene-mutations-in-polish-polyposis-patients-weighty-player-or-vague-background/377294.png","ImageObject",300,407,{"name":92,"@type":93},"Grenda","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-02","2026-09-24",true,{"@type":102,"interactionType":103,"userInteractionCount":29},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What genetic change does the study focus on in NTHL1?","Question",{"text":112,"@type":113},"The study evaluates the significance of the p.Q82* truncating variant in relation to intestinal polyposis predisposition, and it also reports detection of the p.R92C mutation in one patient.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How were patients and controls analyzed?",{"text":117,"@type":113},"The study genotyped 644 Polish patients and 634 control DNA samples using high-resolution melting analysis (HRM) followed by Sanger sequencing.",{"name":119,"@type":110,"acceptedAnswer":120},"What did the researchers conclude about p.Q82* and colorectal cancer risk?",{"text":121,"@type":113},"The relationship of p.Q82* with an increased risk of colorectal cancer could not be univocally confirmed; however, homozygous p.Q82* was reported to be more frequent in patients without other identified mutations, making screening reasonable in that subgroup.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},377294,1791416613,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":29,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":52,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144},7971474921005,"https://ap-avatar.wpscdn.com/davatar_29158cc5080c5b710cf443261637dec0","Article  \nNTHL1 Gene Mutations in Polish Polyposis Patients—Weighty Player or Vague Background?  \nNatalia Grot 1, Marta Kaczmarek-Ry´s 1, Emilia Lis-Tana´s 1, Alicja Kryszczy ´nska 1, Dorota Nowakowska 2, Anna Jakubiuk-Tomaszuk 3,4, Jacek Paszkowski 5, Tomasz Banasiewicz 5, Szymon Hryhorowicz 1 and Andrzej Pławski 1,5, *  \nCitation: Grot, N.; Kaczmarek-Ry´s, M.; Lis-Tana´s, E.; Kryszczy´nska, A.; Nowakowska, D.; Jakubiuk-Tomaszuk, A.; Paszkowski, J.; Banasiewicz, T.; Hryhorowicz, S.; Pławski, A. NTHL1 Gene Mutations in Polish Polyposis Patients—Weighty Player or Vague Background? Int. J. Mol. Sci. 2023, 24, 14548. [https://doi.org/10.3390/](https://doi.org/10.3390/)[ ](https://doi.org/10.3390/)ijms241914548  \nAcademic Editor: Marco Falasca  \nReceived: 24 August 2023  \nRevised: 19 September 2023  \nAccepted: 25 September 2023  \nPublished: 26 September 2023  \nCopyright: © 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) .  \n1 Institute of Human Genetics, Polish Academy of Sciences, Strzeszy ´nska 32, 60-479 Pozna ´n, Poland; [natalia.grot@igcz.poznan.pl](natalia.grot@igcz.poznan.pl) (N.G.); [marta.kaczmarek-rys@igcz.poznan.pl](marta.kaczmarek-rys@igcz.poznan.pl) (M.K.-R.); [emilia.lis@igcz.poznan.pl](emilia.lis@igcz.poznan.pl) (E.L.-T.); [alicja.kryszczynska@igcz.poznan.pl](alicja.kryszczynska@igcz.poznan.pl) (A.K.); [szymon.hryhorowicz@igcz.poznan.pl](szymon.hryhorowicz@igcz.poznan.pl) (S.H.)  \n2 Cancer Genetics Unit, Cancer Prevention Department, The Maria Sklodowska-Curie National Research Institute of Oncology in Warsaw, 02-781 Warsaw, Poland; [dorota.nowakowska@coi.pl](dorota.nowakowska@coi.pl)  \n[3](3 Department of Pediatric Neurology)[ Department of Pediatric Neurology](3 Department of Pediatric Neurology), [Medical University of Bialystok](Medical University of Bialystok), [15-089 Bialystok](15-089 Bialystok), [Poland](Poland); [anna.jakubiuk@udsk.pl](anna.jakubiuk@udsk.pl)  \n4 Medical Genetics Unit, Mastermed Medical Center, 15-089 Bialystok, Poland  \n5 Department of General and Endocrine Surgery and Gastroenterological Oncology, Pozna ´n University of Medical Sciences, Przybyszewskiego 49, 60-355 Pozna ´n, Poland; [japaszek@op.pl](japaszek@op.pl) (J.P.); [tbanasiewicz@op.pl](tbanasiewicz@op.pl) (T.B.)  \n* Correspondence: [andp@man.poznan.pl](andp@man.poznan.pl); Tel.: +48-61-65-79-215  \nAbstract: 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 mutationsidentified, which makes NTHL1 gene screening in this group reasonable.  \nKeywords: colon po","cbCairmO3vAjEb0m","https://ap.wps.com/l/cbCairmO3vAjEb0m","pdf",789603,"English","# Abstract\n# Introduction\n## Colorectal cancer and hereditary risk\n## Polyposis syndromes and genetic background\n# Study aims and methods\n## Patient and control genotyping\n# Results\n## NTHL1 variant detection\n## Disease course in mutation carriers\n# Discussion","[{\"question\":\"What genetic change does the study focus on in NTHL1?\",\"answer\":\"The study evaluates the significance of the p.Q82* truncating variant in relation to intestinal polyposis predisposition, and it also reports detection of the p.R92C mutation in one patient.\"},{\"question\":\"How were patients and controls analyzed?\",\"answer\":\"The study genotyped 644 Polish patients and 634 control DNA samples using high-resolution melting analysis (HRM) followed by Sanger sequencing.\"},{\"question\":\"What did the researchers conclude about p.Q82* and colorectal cancer risk?\",\"answer\":\"The relationship of p.Q82* with an increased risk of colorectal cancer could not be univocally confirmed; however, homozygous p.Q82* was reported to be more frequent in patients without other identified mutations, making screening reasonable in that subgroup.\"}]","NTHL1 Gene Mutations in Polish Polyposis Patients - Weighty Player or Vague Background? | PDF",1790224155,25]