{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:55:13Z","timestamp":1791366913788,"version":"4.3.1"},"reference-count":85,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"Gujarat State Biotechnology Mission","award":["GSBTM\/JDR&D\/604\/2019\/299"],"award-info":[{"award-number":["GSBTM\/JDR&D\/604\/2019\/299"]}]},{"name":"Bakeri Foundation Fellowship"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"DOI":"10.1007\/s10689-026-00607-7","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:35:35Z","timestamp":1791365735000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pan-cancer prevalence of microsatellite instability and Lynch syndrome in India"],"prefix":"10.1007","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9626-0971","authenticated-orcid":false,"given":"Harsh","family":"Sheth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3121-0704","authenticated-orcid":false,"given":"Jyoti","family":"Sadhwani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8093-1531","authenticated-orcid":false,"given":"Bhawna","family":"Sirohi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4896-4576","authenticated-orcid":false,"given":"Senthilkumar","family":"Ramasamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4767-1066","authenticated-orcid":false,"given":"Yashwant","family":"Kashyap","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mithun","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suresh","family":"Advani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidiya","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4008-6040","authenticated-orcid":false,"given":"Vipul D.","family":"Yagnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avinash","family":"Tank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chirag","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raja","family":"Pramanik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhavesh","family":"Thakkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darshan","family":"Bhansali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manish","family":"Gandhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarang","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natoo","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruchir","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravindra","family":"Gaadhe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chintan","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhavin","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaurang","family":"Modi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankita","family":"Jakhar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ava","family":"Desai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chirantan","family":"Bose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Sehrawat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dipak","family":"Limbachiya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chandni","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prachi","family":"Soni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunil","family":"Trivedi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4340-0544","authenticated-orcid":false,"given":"Kshipra","family":"Chauhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8315-9436","authenticated-orcid":false,"given":"Frenny","family":"Sheth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5936-5192","authenticated-orcid":false,"given":"Jayesh","family":"Sheth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8752-8785","authenticated-orcid":false,"given":"D Timothy","family":"Bishop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9823-2322","authenticated-orcid":false,"given":"John","family":"Burn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhinav","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,7]]},"reference":[{"key":"607_CR1","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1056\/NEJMra012242","volume":"348","author":"HT Lynch","year":"2003","unstructured":"Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348:919\u2013932. https:\/\/doi.org\/10.1056\/NEJMra012242","journal-title":"N Engl J Med"},{"key":"607_CR2","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1111\/his.13975","volume":"76","author":"ID Nagtegaal","year":"2020","unstructured":"Nagtegaal ID, Odze RD, Klimstra D et al (2020) The 2019 WHO classification of tumours of the digestive system. Histopathology 76:182\u2013188. https:\/\/doi.org\/10.1111\/his.13975","journal-title":"Histopathology"},{"key":"607_CR3","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1158\/1055-9965.EPI-16-0693","volume":"26","author":"AK Win","year":"2017","unstructured":"Win AK, Jenkins MA, Dowty JG et al (2017) Prevalence and penetrance of major genes and polygenes for colorectal cancer. Cancer Epidemiol Biomarkers Prev 26:404\u2013412. https:\/\/doi.org\/10.1158\/1055-9965.EPI-16-0693","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"607_CR4","doi-asserted-by":"publisher","first-page":"726","DOI":"10.1038\/s41416-022-02059-z","volume":"128","author":"AB Abildgaard","year":"2023","unstructured":"Abildgaard AB, Nielsen SV, Bernstein I et al (2023) Lynch syndrome, molecular mechanisms and variant classification. Br J Cancer 128:726\u2013734. https:\/\/doi.org\/10.1038\/s41416-022-02059-z","journal-title":"Br J Cancer"},{"key":"607_CR5","doi-asserted-by":"publisher","first-page":"1174","DOI":"10.1200\/JCO.2003.04.060","volume":"21","author":"P Peltom\u00e4ki","year":"2003","unstructured":"Peltom\u00e4ki P (2003) Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol 21:1174\u20131179. https:\/\/doi.org\/10.1200\/JCO.2003.04.060","journal-title":"J Clin Oncol"},{"key":"607_CR6","doi-asserted-by":"publisher","first-page":"2073","DOI":"10.1053\/j.gastro.2009.12.064","volume":"138","author":"CR Boland","year":"2010","unstructured":"Boland CR, Goel A (2010) Microsatellite instability in colorectal cancer. Gastroenterology 138:2073. https:\/\/doi.org\/10.1053\/j.gastro.2009.12.064","journal-title":"Gastroenterology"},{"key":"607_CR7","doi-asserted-by":"publisher","first-page":"101909","DOI":"10.1016\/j.eclinm.2023.101909","volume":"58","author":"M Dominguez-Valentin","year":"2023","unstructured":"Dominguez-Valentin M, Haupt S, Sepp\u00e4l\u00e4 TT et al (2023) Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. eClinicalMedicine 58:101909. https:\/\/doi.org\/10.1016\/j.eclinm.2023.101909","journal-title":"eClinicalMedicine"},{"key":"607_CR8","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1038\/s41467-024-52562-5","volume":"16","author":"J Park","year":"2025","unstructured":"Park J, Karnati H, Rustgi SD et al (2025) Impact of population screening for Lynch syndrome insights from the All of Us data. Nat Commun 16:523. https:\/\/doi.org\/10.1038\/s41467-024-52562-5","journal-title":"Nat Commun"},{"key":"607_CR9","doi-asserted-by":"publisher","DOI":"10.1186\/s13053-026-00334-1","author":"C Lowry","year":"2026","unstructured":"Lowry C, Laurent C, Bindra AK et al (2026) Utilization of care and alignment of screening with NCCN guidelines for patients with Lynch syndrome: a retrospective cohort study. Hered Cancer Clin Pract. https:\/\/doi.org\/10.1186\/s13053-026-00334-1","journal-title":"Hered Cancer Clin Pract"},{"key":"607_CR10","doi-asserted-by":"publisher","first-page":"e000054","DOI":"10.1136\/bmjccgg-2025-000054","volume":"3","author":"C Crean","year":"2026","unstructured":"Crean C, McConnell L, Quinn C et al (2026) Population-based screening for Lynch syndrome in patients with colorectal cancer: implementing the NICE diagnostic pathway. BMJ Connect Clin Genet Genomics 3:e000054. https:\/\/doi.org\/10.1136\/bmjccgg-2025-000054","journal-title":"BMJ Connect Clin Genet Genomics"},{"key":"607_CR11","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1038\/s41431-024-01550-w","volume":"32","author":"FE McRonald","year":"2024","unstructured":"McRonald FE, Pethick J, Santaniello F et al (2024) Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway. Eur J Hum Genet 32:529\u2013538. https:\/\/doi.org\/10.1038\/s41431-024-01550-w","journal-title":"Eur J Hum Genet"},{"key":"607_CR12","doi-asserted-by":"publisher","first-page":"1855","DOI":"10.1016\/S0140-6736(20)30366-4","volume":"395","author":"J Burn","year":"2020","unstructured":"Burn J, Sheth H, Elliott F et al (2020) Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial. Lancet 395:1855\u20131863. https:\/\/doi.org\/10.1016\/S0140-6736(20)30366-4","journal-title":"Lancet"},{"key":"607_CR13","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1002\/bjs.11902","volume":"108","author":"TT Sepp\u00e4l\u00e4","year":"2021","unstructured":"Sepp\u00e4l\u00e4 TT, Latchford A, Negoi I et al (2021) European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. Br J Surg 108:484\u2013498. https:\/\/doi.org\/10.1002\/bjs.11902","journal-title":"Br J Surg"},{"key":"607_CR14","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1158\/1940-6207.CAPR-22-0044","volume":"15","author":"JC Mathers","year":"2022","unstructured":"Mathers JC, Elliott F, Macrae F et al (2022) Cancer prevention with resistant starch in Lynch syndrome patients in the CAPP2-randomized placebo controlled trial: planned 10-year follow-up. Cancer Prev Res (Phila Pa) 15:623\u2013634. https:\/\/doi.org\/10.1158\/1940-6207.CAPR-22-0044","journal-title":"Cancer Prev Res (Phila Pa)"},{"key":"607_CR15","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1200\/JCO.18.00283","volume":"37","author":"A Latham","year":"2019","unstructured":"Latham A, Srinivasan P, Kemel Y et al (2019) Microsatellite instability is associated with the presence of Lynch syndrome pan-cancer. J Clin Oncol 37:286\u2013295. https:\/\/doi.org\/10.1200\/JCO.18.00283","journal-title":"J Clin Oncol"},{"key":"607_CR16","doi-asserted-by":"publisher","first-page":"10179","DOI":"10.1038\/s41467-025-65164-6","volume":"16","author":"S Li","year":"2025","unstructured":"Li S, Luo N, Jin G et al (2025) Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum. Nat Commun 16:10179. https:\/\/doi.org\/10.1038\/s41467-025-65164-6","journal-title":"Nat Commun"},{"key":"607_CR17","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1038\/s43856-025-01231-9","volume":"5","author":"K Mizukami","year":"2025","unstructured":"Mizukami K, Usui Y, Iwasaki Y et al (2025) Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch syndrome-associated variants in BioBank Japan. Commun Med 5:522. https:\/\/doi.org\/10.1038\/s43856-025-01231-9","journal-title":"Commun Med"},{"key":"607_CR18","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1111\/cge.12529","volume":"87","author":"G Ponti","year":"2015","unstructured":"Ponti G, Castellsagu\u00e9 E, Ruini C et al (2015) Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome. Clin Genet 87:507\u2013516. https:\/\/doi.org\/10.1111\/cge.12529","journal-title":"Clin Genet"},{"key":"607_CR19","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1007\/s10689-024-00436-6","volume":"24","author":"H Sheth","year":"2024","unstructured":"Sheth H, Sadhwani J, Jain A et al (2024) Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort. Fam Cancer 24:13. https:\/\/doi.org\/10.1007\/s10689-024-00436-6","journal-title":"Fam Cancer"},{"key":"607_CR20","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/s13053-022-00241-1","volume":"20","author":"P M\u00f8ller","year":"2022","unstructured":"M\u00f8ller P, Sepp\u00e4l\u00e4 T, Dowty JG et al (2022) Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. Hered Cancer Clin Pract 20:36. https:\/\/doi.org\/10.1186\/s13053-022-00241-1","journal-title":"Hered Cancer Clin Pract"},{"key":"607_CR21","doi-asserted-by":"publisher","unstructured":"Prospective lynch syndrome database (2025) Metachronous colorectal cancer risks after extended or segmental resection in MLH1, MSH2, and MSH6 Lynch syndrome: multicentre study from the prospective lynch syndrome database. BJS 112:znaf061. https:\/\/doi.org\/10.1093\/bjs\/znaf061","DOI":"10.1093\/bjs\/znaf061"},{"key":"607_CR22","doi-asserted-by":"publisher","first-page":"S29","DOI":"10.4103\/ijc.ijc_66_24","volume":"61","author":"A Saklani","year":"2024","unstructured":"Saklani A, Kazi M, Desouza A et al (2024) Tata Memorial Centre evidence based management of colorectal cancer. Indian J Cancer 61:S29\u2013S51. https:\/\/doi.org\/10.4103\/ijc.ijc_66_24","journal-title":"Indian J Cancer"},{"key":"607_CR23","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215\u20131215. https:\/\/doi.org\/10.1093\/nar\/16.3.1215","journal-title":"Nucleic Acids Res"},{"key":"607_CR24","doi-asserted-by":"publisher","first-page":"12880","DOI":"10.1038\/s41598-021-91974-x","volume":"11","author":"F Dedeurwaerdere","year":"2021","unstructured":"Dedeurwaerdere F, Claes KB, Van Dorpe J et al (2021) Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer. Sci Rep 11:12880. https:\/\/doi.org\/10.1038\/s41598-021-91974-x","journal-title":"Sci Rep"},{"key":"607_CR25","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1186\/s12967-024-04960-y","volume":"22","author":"ML N\u00e1dorv\u00e1ri","year":"2024","unstructured":"N\u00e1dorv\u00e1ri ML, Kenessey I, Kiss A et al (2024) Comparison of standard mismatch repair deficiency and microsatellite instability tests in a large cancer series. J Transl Med 22:150. https:\/\/doi.org\/10.1186\/s12967-024-04960-y","journal-title":"J Transl Med"},{"key":"607_CR26","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1186\/2050-7771-1-3","volume":"1","author":"T Huang","year":"2013","unstructured":"Huang T, Zhuge J, Zhang WW (2013) Sensitive detection of BRAF V600E mutation by amplification refractory mutation system (ARMS)-PCR. Biomark Res 1:3. https:\/\/doi.org\/10.1186\/2050-7771-1-3","journal-title":"Biomark Res"},{"key":"607_CR27","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754\u20131760. https:\/\/doi.org\/10.1093\/bioinformatics\/btp324","journal-title":"Bioinformatics"},{"key":"607_CR28","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1110s43","author":"GA Van Der Auwera","year":"2013","unstructured":"Van Der Auwera GA, Carneiro MO, Hartl C et al (2013) From FastQ data to high-confidence variant calls: the genome analysis toolkit best practices pipeline. Curr Protoc Bioinforma. https:\/\/doi.org\/10.1002\/0471250953.bi1110s43","journal-title":"Curr Protoc Bioinforma"},{"key":"607_CR29","doi-asserted-by":"publisher","first-page":"2004","DOI":"10.1038\/nprot.2015.124","volume":"10","author":"D Smedley","year":"2015","unstructured":"Smedley D, Jacobsen JOB, J\u00e4ger M et al (2015) Next-generation diagnostics and disease-gene discovery with the Exomiser. Nat Protoc 10:2004\u20132015. https:\/\/doi.org\/10.1038\/nprot.2015.124","journal-title":"Nat Protoc"},{"key":"607_CR30","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1016\/j.ajhg.2008.09.017","volume":"83","author":"PN Robinson","year":"2008","unstructured":"Robinson PN, K\u00f6hler S, Bauer S et al (2008) The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet 83:610\u2013615. https:\/\/doi.org\/10.1016\/j.ajhg.2008.09.017","journal-title":"Am J Hum Genet"},{"key":"607_CR31","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","volume":"99","author":"NM Ioannidis","year":"2016","unstructured":"Ioannidis NM, Rothstein JH, Pejaver V et al (2016) REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet 99:877\u2013885. https:\/\/doi.org\/10.1016\/j.ajhg.2016.08.016","journal-title":"Am J Hum Genet"},{"key":"607_CR32","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1038\/s41467-020-20847-0","volume":"12","author":"H Qi","year":"2021","unstructured":"Qi H, Zhang H, Zhao Y et al (2021) MVP predicts the pathogenicity of missense variants by deep learning. Nat Commun 12:510. https:\/\/doi.org\/10.1038\/s41467-020-20847-0","journal-title":"Nat Commun"},{"key":"607_CR33","doi-asserted-by":"publisher","first-page":"W452","DOI":"10.1093\/nar\/gks539","volume":"40","author":"N-L Sim","year":"2012","unstructured":"Sim N-L, Kumar P, Hu J et al (2012) SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 40:W452\u2013W457. https:\/\/doi.org\/10.1093\/nar\/gks539","journal-title":"Nucleic Acids Res"},{"key":"607_CR34","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","volume":"11","author":"JM Schwarz","year":"2014","unstructured":"Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361\u2013362. https:\/\/doi.org\/10.1038\/nmeth.2890","journal-title":"Nat Methods"},{"key":"607_CR35","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76","author":"I Adzhubei","year":"2013","unstructured":"Adzhubei I, Jordan DM, Sunyaev SR (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. https:\/\/doi.org\/10.1002\/0471142905.hg0720s76","journal-title":"Curr Protoc Hum Genet"},{"key":"607_CR36","doi-asserted-by":"publisher","first-page":"D886","DOI":"10.1093\/nar\/gky1016","volume":"47","author":"P Rentzsch","year":"2019","unstructured":"Rentzsch P, Witten D, Cooper GM et al (2019) CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res 47:D886\u2013D894. https:\/\/doi.org\/10.1093\/nar\/gky1016","journal-title":"Nucleic Acids Res"},{"key":"607_CR37","doi-asserted-by":"publisher","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","volume":"46","author":"MJ Landrum","year":"2018","unstructured":"Landrum MJ, Lee JM, Benson M et al (2018) ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res 46:D1062\u2013D1067. https:\/\/doi.org\/10.1093\/nar\/gkx1153","journal-title":"Nucleic Acids Res"},{"key":"607_CR38","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1007\/s10689-013-9616-0","volume":"12","author":"JP Plazzer","year":"2013","unstructured":"Plazzer JP, Sijmons RH, Woods MO et al (2013) The InSiGHT database: utilizing 100 years of insights into Lynch syndrome. Fam Cancer 12:175\u2013180. https:\/\/doi.org\/10.1007\/s10689-013-9616-0","journal-title":"Fam Cancer"},{"key":"607_CR39","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1093\/bib\/bbs017","volume":"14","author":"H Thorvaldsdottir","year":"2013","unstructured":"Thorvaldsdottir H, Robinson JT, Mesirov JP (2013) Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief Bioinform 14:178\u2013192. https:\/\/doi.org\/10.1093\/bib\/bbs017","journal-title":"Brief Bioinform"},{"key":"607_CR40","doi-asserted-by":"publisher","first-page":"3572","DOI":"10.1093\/bioinformatics\/bty304","volume":"34","author":"V Geoffroy","year":"2018","unstructured":"Geoffroy V, Herenger Y, Kress A et al (2018) AnnotSV: an integrated tool for structural variations annotation. Bioinformatics 34:3572\u20133574. https:\/\/doi.org\/10.1093\/bioinformatics\/bty304","journal-title":"Bioinformatics"},{"key":"607_CR41","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581:434\u2013443. https:\/\/doi.org\/10.1038\/s41586-020-2308-7","journal-title":"Nature"},{"key":"607_CR42","doi-asserted-by":"publisher","first-page":"D986","DOI":"10.1093\/nar\/gkt958","volume":"42","author":"JR MacDonald","year":"2014","unstructured":"MacDonald JR, Ziman R, Yuen RKC et al (2014) The Database of genomic variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 42:D986\u2013D992. https:\/\/doi.org\/10.1093\/nar\/gkt958","journal-title":"Nucleic Acids Res"},{"key":"607_CR43","doi-asserted-by":"publisher","first-page":"D514","DOI":"10.1093\/nar\/gki033","volume":"33","author":"A Hamosh","year":"2004","unstructured":"Hamosh A (2004) Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 33:D514\u2013D517. https:\/\/doi.org\/10.1093\/nar\/gki033","journal-title":"Nucleic Acids Res"},{"key":"607_CR44","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1002\/humu.20318","volume":"27","author":"M Clendenning","year":"2006","unstructured":"Clendenning M, Hampel H, LaJeunesse J et al (2006) Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat 27:490\u2013495. https:\/\/doi.org\/10.1002\/humu.20318","journal-title":"Hum Mutat"},{"key":"607_CR45","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"607_CR46","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1002\/humu.24291","volume":"43","author":"C Thaxton","year":"2022","unstructured":"Thaxton C, Good ME, DiStefano MT et al (2022) Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification. Hum Mutat 43:1031\u20131040. https:\/\/doi.org\/10.1002\/humu.24291","journal-title":"Hum Mutat"},{"key":"607_CR47","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd-Brown K et al (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559\u2013575. https:\/\/doi.org\/10.1086\/519795","journal-title":"Am J Hum Genet"},{"key":"607_CR48","doi-asserted-by":"publisher","first-page":"1880","DOI":"10.1016\/j.ajhg.2021.08.005","volume":"108","author":"BL Browning","year":"2021","unstructured":"Browning BL, Tian X, Zhou Y, Browning SR (2021) Fast two-stage phasing of large-scale sequence data. Am J Hum Genet 108:1880\u20131890. https:\/\/doi.org\/10.1016\/j.ajhg.2021.08.005","journal-title":"Am J Hum Genet"},{"key":"607_CR49","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1534\/genetics.112.148825","volume":"194","author":"EA Thompson","year":"2013","unstructured":"Thompson EA (2013) Identity by descent: variation in meiosis, across genomes, and in populations. Genetics 194:301\u2013326. https:\/\/doi.org\/10.1534\/genetics.112.148825","journal-title":"Genetics"},{"key":"607_CR50","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1534\/genetics.113.150029","volume":"194","author":"BL Browning","year":"2013","unstructured":"Browning BL, Browning SR (2013) Improving the accuracy and efficiency of identity-by-descent detection in population data. Genetics 194:459\u2013471. https:\/\/doi.org\/10.1534\/genetics.113.150029","journal-title":"Genetics"},{"key":"607_CR51","doi-asserted-by":"publisher","first-page":"e1001555","DOI":"10.1371\/journal.pbio.1001555","volume":"11","author":"P Ralph","year":"2013","unstructured":"Ralph P, Coop G (2013) The geography of recent genetic ancestry across Europe. PLoS Biol 11:e1001555. https:\/\/doi.org\/10.1371\/journal.pbio.1001555","journal-title":"PLoS Biol"},{"key":"607_CR52","doi-asserted-by":"publisher","first-page":"1943","DOI":"10.1200\/JCO.22.02462","volume":"41","author":"P Vikas","year":"2023","unstructured":"Vikas P, Messersmith H, Compton C et al (2023) Mismatch repair and microsatellite instability testing for immune checkpoint inhibitor therapy: ASCO endorsement of College of American Pathologists guideline. J Clin Oncol 41:1943\u20131948. https:\/\/doi.org\/10.1200\/JCO.22.02462","journal-title":"J Clin Oncol"},{"key":"607_CR53","doi-asserted-by":"publisher","first-page":"e508","DOI":"10.1016\/j.cgh.2021.04.013","volume":"20","author":"PLS Uson","year":"2022","unstructured":"Uson PLS, Riegert-Johnson D, Boardman L et al (2022) Germline cancer susceptibility gene testing in unselected patients with colorectal adenocarcinoma: a multicenter prospective study. Clin Gastroenterol Hepatol 20:e508\u2013e528. https:\/\/doi.org\/10.1016\/j.cgh.2021.04.013","journal-title":"Clin Gastroenterol Hepatol"},{"key":"607_CR54","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/j.ygyno.2019.11.005","volume":"156","author":"NE Griffin","year":"2020","unstructured":"Griffin NE, Buchanan TR, Smith SH et al (2020) Low rates of cascade genetic testing among families with hereditary gynecologic cancer: an opportunity to improve cancer prevention. Gynecol Oncol 156:140\u2013146. https:\/\/doi.org\/10.1016\/j.ygyno.2019.11.005","journal-title":"Gynecol Oncol"},{"key":"607_CR55","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-019-0096-5","volume":"4","author":"E Courtney","year":"2019","unstructured":"Courtney E, Chok AK-L, Ting Ang ZL et al (2019) Impact of free cancer predisposition cascade genetic testing on uptake in Singapore. NPJ Genom Med 4:22. https:\/\/doi.org\/10.1038\/s41525-019-0096-5","journal-title":"NPJ Genom Med"},{"key":"607_CR86","doi-asserted-by":"publisher","unstructured":"First Tissue-Agnostic Drug Approval Issued. Cancer Discov (2017); 7(7):656. Epub 2017 Jun 5. PMID: 28583911. https:\/\/doi.org\/10.1158\/2159-8290.CD-NB2017-078","DOI":"10.1158\/2159-8290.CD-NB2017-078"},{"key":"607_CR57","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1002\/humu.23906","volume":"41","author":"R Gallon","year":"2020","unstructured":"Gallon R, Sheth H, Hayes C et al (2020) Sequencing\u2010based microsatellite instability testing using as few as six markers for high\u2010throughput clinical diagnostics. Hum Mutat 41:332\u2013341. https:\/\/doi.org\/10.1002\/humu.23906","journal-title":"Hum Mutat"},{"key":"607_CR58","doi-asserted-by":"publisher","first-page":"1155","DOI":"10.1093\/ced\/llaf005","volume":"50","author":"R Gallon","year":"2025","unstructured":"Gallon R, Holt G, Alfailakawi W et al (2025) Novel microsatellite instability test of sebaceous tumours to facilitate low-cost universal screening for Lynch syndrome. Clin Exp Dermatol 50:1155\u20131162. https:\/\/doi.org\/10.1093\/ced\/llaf005","journal-title":"Clin Exp Dermatol"},{"key":"607_CR59","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2013.00281","author":"A Thiel","year":"2013","unstructured":"Thiel A, Ristim\u00e4ki A (2013) Toward a molecular classification of colorectal cancer: the role of BRAF. Front Oncol. https:\/\/doi.org\/10.3389\/fonc.2013.00281","journal-title":"Front Oncol"},{"key":"607_CR60","doi-asserted-by":"publisher","unstructured":"Thomas N, Pai KN U, Raju L et al (2025) Clinicopathological features and BRAFV600E mutation analysis in colorectal cancer. Asian J Oncol https:\/\/doi.org\/10.25259\/ASJO_60_2024","DOI":"10.25259\/ASJO_60_2024"},{"key":"607_CR61","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1055\/s-0041-1740244","volume":"11","author":"O Shetty","year":"2022","unstructured":"Shetty O, Vengurlekar V, Kapoor A et al (2022) The prevalence of BRAF, PIK3CA, and RAS mutations in Indian patients with colorectal cancer. South Asian J Cancer 11:190\u2013194. https:\/\/doi.org\/10.1055\/s-0041-1740244","journal-title":"South Asian J Cancer"},{"key":"607_CR62","doi-asserted-by":"publisher","first-page":"1403","DOI":"10.4103\/jcrt.JCRT_26_17","volume":"14","author":"S Saxena","year":"2018","unstructured":"Saxena S, Srinivas V, Deb P et al (2018) A study of BRAF mutation in colorectal carcinoma in Indian population. J Cancer Res Ther 14:1403\u20131406. https:\/\/doi.org\/10.4103\/jcrt.JCRT_26_17","journal-title":"J Cancer Res Ther"},{"key":"607_CR63","doi-asserted-by":"publisher","first-page":"165","DOI":"10.4103\/jrcr.jrcr_29_21","volume":"12","author":"P Daga","year":"2021","unstructured":"Daga P, Rawal T, Gupta PK, Khatri NK (2021) Incidence of colorectal cancer in North-Western India over 5 years. J Radiat Cancer Res 12:165\u2013167. https:\/\/doi.org\/10.4103\/jrcr.jrcr_29_21","journal-title":"J Radiat Cancer Res"},{"key":"607_CR64","doi-asserted-by":"publisher","DOI":"10.1200\/GO.21.00111","author":"SVS Deo","year":"2021","unstructured":"Deo SVS, Kumar S, Bhoriwal S et al (2021) Colorectal cancers in low- and middle-income countries\u2014demographic pattern and clinical profile of 970 patients treated at a tertiary care cancer center in India. JCO Glob Oncol. https:\/\/doi.org\/10.1200\/GO.21.00111","journal-title":"JCO Glob Oncol"},{"key":"607_CR65","doi-asserted-by":"publisher","first-page":"e16084","DOI":"10.1200\/JCO.2020.38.15_suppl.e16084","volume":"38","author":"V Mathew Thomas","year":"2020","unstructured":"Mathew Thomas V, Baby B, Wang K et al (2020) Trends in colorectal cancer incidence in India. J Clin Oncol 38:e16084. https:\/\/doi.org\/10.1200\/JCO.2020.38.15_suppl.e16084","journal-title":"J Clin Oncol"},{"key":"607_CR66","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1007\/s43152-024-00054-5","volume":"5","author":"AK Kaler","year":"2024","unstructured":"Kaler AK, Fatima S, Dhurat O et al (2024) Role of microsatellite instability as pan-cancer agnostic marker of solid tumours in personalized medicine. Curr Tissue Microenviron Rep 5:69\u201377. https:\/\/doi.org\/10.1007\/s43152-024-00054-5","journal-title":"Curr Tissue Microenviron Rep"},{"key":"607_CR67","doi-asserted-by":"publisher","first-page":"2751","DOI":"10.1056\/NEJMoa053493","volume":"354","author":"RA Barnetson","year":"2006","unstructured":"Barnetson RA, Tenesa A, Farrington SM et al (2006) Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 354:2751\u20132763. https:\/\/doi.org\/10.1056\/NEJMoa053493","journal-title":"N Engl J Med"},{"key":"607_CR68","doi-asserted-by":"publisher","first-page":"1479","DOI":"10.1001\/jama.296.12.1479","volume":"296","author":"S Chen","year":"2006","unstructured":"Chen S, Wang W, Lee S et al (2006) Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 296:1479. https:\/\/doi.org\/10.1001\/jama.296.12.1479","journal-title":"JAMA"},{"key":"607_CR69","doi-asserted-by":"publisher","first-page":"2165","DOI":"10.1200\/JCO.2016.69.6120","volume":"35","author":"F Kastrinos","year":"2017","unstructured":"Kastrinos F, Uno H, Ukaegbu C et al (2017) Development and validation of the PREMM5 model for comprehensive risk assessment of Lynch syndrome. J Clin Oncol 35:2165\u20132172. https:\/\/doi.org\/10.1200\/JCO.2016.69.6120","journal-title":"J Clin Oncol"},{"key":"607_CR70","doi-asserted-by":"publisher","first-page":"12299","DOI":"10.3390\/ijms232012299","volume":"23","author":"R Bu","year":"2022","unstructured":"Bu R, Siraj AK, Parvathareddy SK et al (2022) Lynch syndrome identification in Saudi cohort of endometrial cancer patients screened by universal approach. Int J Mol Sci 23:12299. https:\/\/doi.org\/10.3390\/ijms232012299","journal-title":"Int J Mol Sci"},{"key":"607_CR71","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1007\/s10689-020-00206-0","volume":"20","author":"G Kunnackal John","year":"2021","unstructured":"Kunnackal John G, Das Villgran V, Caufield-Noll C, Giardiello F (2021) Worldwide variation in Lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas. Fam Cancer 20:145\u2013156. https:\/\/doi.org\/10.1007\/s10689-020-00206-0","journal-title":"Fam Cancer"},{"key":"607_CR72","doi-asserted-by":"publisher","first-page":"175883592110232","DOI":"10.1177\/17588359211023290","volume":"13","author":"M Yang","year":"2021","unstructured":"Yang M, Li D, Jiang W et al (2021) Development and external validation of a novel nomogram for screening Chinese Lynch syndrome: based on a multicenter, population study. Ther Adv Med Oncol 13:17588359211023290. https:\/\/doi.org\/10.1177\/17588359211023290","journal-title":"Ther Adv Med Oncol"},{"key":"607_CR73","doi-asserted-by":"publisher","first-page":"14755","DOI":"10.1038\/ncomms14755","volume":"8","author":"S Haraldsdottir","year":"2017","unstructured":"Haraldsdottir S, Rafnar T, Frankel WL et al (2017) Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. Nat Commun 8:14755. https:\/\/doi.org\/10.1038\/ncomms14755","journal-title":"Nat Commun"},{"key":"607_CR74","doi-asserted-by":"publisher","first-page":"2161","DOI":"10.1002\/ijc.32044","volume":"144","author":"W Jiang","year":"2019","unstructured":"Jiang W, Cai M, Li S et al (2019) Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: high prevalence and unique molecular features. Int J Cancer 144:2161\u20132168. https:\/\/doi.org\/10.1002\/ijc.32044","journal-title":"Int J Cancer"},{"key":"607_CR75","doi-asserted-by":"publisher","first-page":"1235","DOI":"10.20892\/j.issn.2095-3941.2021.0585","volume":"19","author":"Y Li","year":"2022","unstructured":"Li Y, Fan L, Zheng J et al (2022) Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer. Cancer Biol Med 19:1235\u20131248. https:\/\/doi.org\/10.20892\/j.issn.2095-3941.2021.0585","journal-title":"Cancer Biol Med"},{"key":"607_CR76","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1136\/gutjnl-2011-300041","volume":"61","author":"L P\u00e9rez-Carbonell","year":"2012","unstructured":"P\u00e9rez-Carbonell L, Ruiz-Ponte C, Guarinos C et al (2012) Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Gut 61:865\u2013872. https:\/\/doi.org\/10.1136\/gutjnl-2011-300041","journal-title":"Gut"},{"key":"607_CR77","doi-asserted-by":"publisher","first-page":"e1003263","DOI":"10.1371\/journal.pmed.1003263","volume":"17","author":"NAJ Ryan","year":"2020","unstructured":"Ryan NAJ, McMahon R, Tobi S et al (2020) The proportion of endometrial tumours associated with Lynch syndrome (PETALS): a prospective cross-sectional study. PLoS Med 17:e1003263. https:\/\/doi.org\/10.1371\/journal.pmed.1003263","journal-title":"PLoS Med"},{"key":"607_CR78","doi-asserted-by":"publisher","first-page":"264","DOI":"10.5230\/jgc.2023.23.e5","volume":"23","author":"Y Park","year":"2023","unstructured":"Park Y, Nam SK, Seo SH et al (2023) Comprehensive study of microsatellite instability testing and its comparison with immunohistochemistry in gastric cancers. J Gastric Cancer 23:264. https:\/\/doi.org\/10.5230\/jgc.2023.23.e5","journal-title":"J Gastric Cancer"},{"key":"607_CR79","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.humpath.2021.10.004","volume":"119","author":"MC Smithgall","year":"2022","unstructured":"Smithgall MC, Remotti H, Hsiao SJ et al (2022) Investigation of discrepant mismatch repair immunohistochemistry and microsatellite instability polymerase chain reaction test results for gynecologic cancers using next-generation sequencing. Hum Pathol 119:41\u201350. https:\/\/doi.org\/10.1016\/j.humpath.2021.10.004","journal-title":"Hum Pathol"},{"key":"607_CR80","doi-asserted-by":"publisher","first-page":"14468","DOI":"10.3390\/ijms241914468","volume":"24","author":"M Mendiola","year":"2023","unstructured":"Mendiola M, Heredia-Soto V, Ruz-Caracuel I et al (2023) Comparison of methods for testing mismatch repair status in endometrial cancer. Int J Mol Sci 24:14468. https:\/\/doi.org\/10.3390\/ijms241914468","journal-title":"Int J Mol Sci"},{"key":"607_CR81","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1038\/s41436-019-0596-9","volume":"22","author":"M Dominguez-Valentin","year":"2020","unstructured":"Dominguez-Valentin M, Sampson JR, Sepp\u00e4l\u00e4 TT et al (2020) Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genet Med 22:15\u201325. https:\/\/doi.org\/10.1038\/s41436-019-0596-9","journal-title":"Genet Med"},{"key":"607_CR82","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1136\/jmg-2023-109791","volume":"61","author":"E Fummey","year":"2024","unstructured":"Fummey E, Navarro P, Plazzer J-P et al (2024) Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank. J Med Genet 61:861\u2013869. https:\/\/doi.org\/10.1136\/jmg-2023-109791","journal-title":"J Med Genet"},{"key":"607_CR83","doi-asserted-by":"publisher","first-page":"10517","DOI":"10.1200\/JCO.2023.41.16_suppl.10517","volume":"41","author":"E Harrold","year":"2023","unstructured":"Harrold E, Vanderbilt C, Maio A et al (2023) Clinical and molecular characterization of microsatellite stable (MSS) tumors in patients with Lynch syndrome (LS). J Clin Oncol 41:10517\u201310517. https:\/\/doi.org\/10.1200\/JCO.2023.41.16_suppl.10517","journal-title":"J Clin Oncol"},{"key":"607_CR84","doi-asserted-by":"publisher","first-page":"783","DOI":"10.1053\/j.gastro.2022.08.058","volume":"164","author":"P Peltom\u00e4ki","year":"2023","unstructured":"Peltom\u00e4ki P, Nystr\u00f6m M, Mecklin J-P, Sepp\u00e4l\u00e4 TT (2023) Lynch syndrome genetics and clinical implications. Gastroenterology 164:783\u2013799. https:\/\/doi.org\/10.1053\/j.gastro.2022.08.058","journal-title":"Gastroenterology"},{"key":"607_CR85","unstructured":"National comprehensive cancer network NCCN clinical practice guidelines in oncology: genetic\/familial high-risk assessment: colorectal, endometrial, esophageal, and gastric"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-026-00607-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10689-026-00607-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-026-00607-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:35:37Z","timestamp":1791365737000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10689-026-00607-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,7]]},"references-count":85,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["607"],"URL":"https:\/\/doi.org\/10.1007\/s10689-026-00607-7","relation":{},"ISSN":["1573-7292"],"issn-type":[{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,7]]},"assertion":[{"value":"2 June 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 September 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 October 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All authors certify that they have no affiliations with or involvement in any organisation or entity with any financial interest or non-financial interest in the subject matter or materials discussed in this manuscript.","order":1,"name":"Ethics","label":"Conflict of interest","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was collected from all patients. All methods were carried out in accordance with the Declaration of Helsinki. This study was approved by the Ethics Committee at FRIGE\u2019s Institute of Human Genetics, Ahmedabad (FRIGE\/IEC\/23\/2024), CIMS Hospital, Ahmedabad, BALCO Medical Centre, Chhattisgarh (BMCIRB\/2024\/03), AIIMS, Delhi (AIIMSA1322\/03.05.2024, RP-20\/2024) and AIIMS, Rishikesh (AIIMS\/IEC\/25\/206). The study was registered with the Clinical Trials Registry\u2014India (CTRI) with registration number CTRI\/2024\/03\/063560.","order":2,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":3,"name":"Ethics","label":"Consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Patients signed informed consent regarding publishing their data.","order":4,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"93"}}