{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T09:59:26Z","timestamp":1790589566360,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:00:00Z","timestamp":1790553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T00:00:00Z","timestamp":1790553600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Colorectal Disease"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Approximately 5%\u201310% of colorectal cancer (CRC) cases are due to known Mendelian syndromes. This study aimed to report the diagnostic yield of constitutional genetic testing, alongside clinicopathological factors for hereditary CRC, within a specialised National Bowel Hospital, and outside traditional genetics referral pathways.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      This study retrospectively reviewed clinical, pathological and genetic factors using prospectively collected data from the St Mark's Hospital Centre for Familial Intestinal Cancer registry. Between December 2021 and June 2023, consecutive patients at risk of hereditary CRC were selected for genetic testing according to UK National Genomic Testing criteria. The diagnostic yield of genetic testing was calculated by indication. Statistical analysis for clinicopathological data was performed using the Mann\u2013Whitney\n                      <jats:italic>U<\/jats:italic>\n                      test, chi\u2010square test and logistic regression.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 283 consecutive patients underwent genetic testing, 100 (35.3%) mainstreamed with CRC, 95 (33.6%) with multiple polyps, 74 (26.6%) had cascade testing (within families where the probands were known to the registry) and other testing including \u2018unaffected\u2019 patients with a relevant family history. Variants were detected in 85 of 283 (30%) patients with known CRC predisposition genes. Diagnostic yields were high for deficient mismatch repair (dMMR) cancer with Lynch syndrome (LS) at 45%, and also for multiple adenoma cohorts at 16%; and in CRC patients under 40\u2009years (irrespective of tumour MMR status) at 16%.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Genetic testing performed by our specialist unit provides patients with a high\u2010yield, and effective genetic diagnosis, directly indicating comprehensive lifelong care, outside the context of a traditional genetics service.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/codi.70640","type":"journal-article","created":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T09:43:41Z","timestamp":1790588621000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Outcomes of \u2018in\u2010house\u2019 genetic testing within a specialist hereditary colorectal cancer registry"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0403-2611","authenticated-orcid":false,"given":"Manasawee","family":"Srisuttayasathien","sequence":"first","affiliation":[{"name":"The St Mark's Centre for Familial Intestinal Cancer St Mark's: The National Bowel Hospital, Central Middlesex Hospital Site  London UK"},{"name":"Department of Surgery and Cancer Imperial College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-8939-3312","authenticated-orcid":false,"given":"Victoria","family":"Cuthill","sequence":"additional","affiliation":[{"name":"The St Mark's Centre for Familial Intestinal Cancer St Mark's: The National Bowel Hospital, Central Middlesex Hospital Site  London UK"},{"name":"Department of Surgery and Cancer Imperial College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Menna","family":"Hawkins","sequence":"additional","affiliation":[{"name":"The St Mark's Centre for Familial Intestinal Cancer St Mark's: The National Bowel Hospital, Central Middlesex Hospital Site  London UK"},{"name":"Department of Surgery and Cancer Imperial College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9384-2482","authenticated-orcid":false,"given":"Ashish","family":"Sinha","sequence":"additional","affiliation":[{"name":"The St Mark's Centre for Familial Intestinal Cancer St Mark's: The National Bowel Hospital, Central Middlesex Hospital Site  London UK"},{"name":"Department of Surgery and Cancer Imperial College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6929-8082","authenticated-orcid":false,"given":"Susan","family":"Clark","sequence":"additional","affiliation":[{"name":"The St Mark's Centre for Familial Intestinal Cancer St Mark's: The National Bowel Hospital, Central Middlesex Hospital Site  London UK"},{"name":"Department of Surgery and Cancer Imperial College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8626-188X","authenticated-orcid":false,"given":"Andrew","family":"Latchford","sequence":"additional","affiliation":[{"name":"The St Mark's Centre for Familial Intestinal Cancer St Mark's: The National Bowel Hospital, Central Middlesex Hospital Site  London UK"},{"name":"Department of Surgery and Cancer Imperial College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7918-4003","authenticated-orcid":false,"given":"Kevin J.","family":"Monahan","sequence":"additional","affiliation":[{"name":"The St Mark's Centre for Familial Intestinal Cancer St Mark's: The National Bowel Hospital, Central Middlesex Hospital Site  London UK"},{"name":"Department of Surgery and Cancer Imperial College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,28]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200007133430201"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2009.01230.x"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.2147\/CMAR.S283668"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/gutjnl\u20102019\u2010319915"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2019.03.007"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2018.12.008"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s44276\u2010023\u201000011\u2010z"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.giec.2021.12.001"},{"key":"e_1_2_12_10_1","unstructured":"National Institute for Health and Care Excellence.Moleculartesting Strategies for 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Testing criteria for rare and inherited disease v.5.2 June 2023 (official).2023.https:\/\/www.england.nhs.uk\/wp\u2010content\/uploads\/2018\/08\/Rare\u2010and\u2010inherited\u2010disease\u2010eligibility\u2010criteria\u2010version\u20105.2.pdf"},{"key":"e_1_2_12_15_1","unstructured":"DurkieM CassidyE BerryI OwensM TurnbullC ScottRH et\u00a0al.ACGS best practice guidelines for variant classification in rare disease.2023."},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1164\/jnccn.2021.0048"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689\u2010025\u201000451\u20101"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010026\u201002060\u20107"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010026\u201002132\u20108"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canep.2022.102291"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.33117"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689\u2010020\u201000226\u2010w"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/codi.14597"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967\u2010020\u201002336\u20106"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers13020300"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2016.69.6120"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.4997\/JRCPE.2020.409"}],"container-title":["Colorectal Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/codi.70640","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/codi.70640","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/codi.70640","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T09:43:43Z","timestamp":1790588623000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/codi.70640"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,28]]},"references-count":26,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1111\/codi.70640"],"URL":"https:\/\/doi.org\/10.1111\/codi.70640","archive":["Portico"],"relation":{},"ISSN":["1462-8910","1463-1318"],"issn-type":[{"value":"1462-8910","type":"print"},{"value":"1463-1318","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,28]]},"assertion":[{"value":"2026-07-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70640"}}