{"id":8982,"date":"2020-09-29T15:35:31","date_gmt":"2020-09-29T13:35:31","guid":{"rendered":"https:\/\/www.endoscopy-campus.com\/?post_type=ec-news&#038;p=8982"},"modified":"2020-09-29T15:35:32","modified_gmt":"2020-09-29T13:35:32","slug":"monoallelic-nthl1-loss-of-function-not-associated-with-colorectal-cancer","status":"publish","type":"ec-news","link":"https:\/\/www.endoscopy-campus.com\/en\/ec-news\/monoallelic-nthl1-loss-of-function-not-associated-with-colorectal-cancer\/","title":{"rendered":"Monoallelic NTHL1 Loss of Function Not Associated With Colorectal Cancer"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\"><em>NTHL1&nbsp;<\/em>encodes endonuclease III-like protein 1, an enzyme involved in base-excision repair that identifies and removes oxidized pyrimidines. Biallelic loss-of-function mutations of base-excision repair genes, such as&nbsp;<em>MUTYH<\/em>&nbsp;and&nbsp;<em>NTHL1<\/em>, are known to predispose to colorectal polyps and colorectal cancer (CRC). Monoallelic&nbsp;<em>MUTYH<\/em>&nbsp;mutations are also known to confer a small increased risk of colorectal cancer; however, the significance of monoallelic&nbsp;<em>NTHL1<\/em>&nbsp;loss-of-function mutations (which represent 0.28% of the general population) is not currently known.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">In a study of 5492 individuals with unexplained polyposis, familial CRC, sporadic CRC at a young age, or suspected Lynch syndrome with CRC or multiple adenomas, the authors found no association between monoallelic&nbsp;<em>NTHL1<\/em>&nbsp;carriers and risk of polyposis and\/or CRC. Further, colorectal tumors from monoallelic<em>&nbsp;NTHL1<\/em>&nbsp;loss-of-function carriers did not show evidence of a second hit in&nbsp;<em>NTHL1<\/em>. However, the authors were unable to rule out a small risk of CRC similar to what has been observed for&nbsp;<em>MUTYH<\/em>&nbsp;carriers.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>NTHL1&nbsp;encodes endonuclease III-like protein 1, an enzyme involved in base-excision repair that identifies and removes oxidized pyrimidines. Biallelic loss-of-function mutations of base-excision repair genes, such as&nbsp;MUTYH&nbsp;and&nbsp;NTHL1, are known to predispose to colorectal polyps and colorectal cancer (CRC). Monoallelic&nbsp;MUTYH&nbsp;mutations are also known to confer a small increased risk of colorectal cancer; however, the significance of monoallelic&nbsp;NTHL1&nbsp;loss-of-function &#8230; <a title=\"Monoallelic NTHL1 Loss of Function Not Associated With Colorectal Cancer\" class=\"read-more\" href=\"https:\/\/www.endoscopy-campus.com\/en\/ec-news\/monoallelic-nthl1-loss-of-function-not-associated-with-colorectal-cancer\/\" aria-label=\"Read more about Monoallelic NTHL1 Loss of Function Not Associated With Colorectal Cancer\">Read more<\/a><\/p>\n","protected":false},"template":"","categories":[1768,1769],"tags":[2058,1343,2137],"class_list":["post-8982","ec-news","type-ec-news","status-publish","hentry","category-asge-journal-scan","category-asge-kolon","tag-colon-2","tag-crc","tag-nthl1"],"_links":{"self":[{"href":"https:\/\/www.endoscopy-campus.com\/en\/wp-json\/wp\/v2\/ec-news\/8982","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.endoscopy-campus.com\/en\/wp-json\/wp\/v2\/ec-news"}],"about":[{"href":"https:\/\/www.endoscopy-campus.com\/en\/wp-json\/wp\/v2\/types\/ec-news"}],"wp:attachment":[{"href":"https:\/\/www.endoscopy-campus.com\/en\/wp-json\/wp\/v2\/media?parent=8982"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.endoscopy-campus.com\/en\/wp-json\/wp\/v2\/categories?post=8982"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.endoscopy-campus.com\/en\/wp-json\/wp\/v2\/tags?post=8982"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}