{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T16:40:56Z","timestamp":1790959256522,"version":"4.1.0"},"reference-count":39,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T00:00:00Z","timestamp":1661990400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T00:00:00Z","timestamp":1607904000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["cghjournal.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Gastroenterology and Hepatology"],"published-print":{"date-parts":[[2022,9]]},"DOI":"10.1016\/j.cgh.2020.12.007","type":"journal-article","created":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T19:16:41Z","timestamp":1607714201000},"page":"2132-2141.e9","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":45,"title":["Population-based Screening for Hereditary Colorectal Cancer Variants in Japan"],"prefix":"10.1016","volume":"20","author":[{"given":"Masashi","family":"Fujita","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Iwasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chikashi","family":"Terao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keijiro","family":"Mizukami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiryo","family":"Kawakami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadaaki","family":"Takata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chihiro","family":"Inai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomomi","family":"Aoi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Misaki","family":"Mizukoshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Maejima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Hirata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Murakami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichiro","family":"Kamatani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiaki","family":"Kubo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiwamu","family":"Akagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Matsuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidewaki","family":"Nakagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukihide","family":"Momozawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cgh.2020.12.007_bib1","doi-asserted-by":"crossref","first-page":"2044","DOI":"10.1053\/j.gastro.2010.01.054","article-title":"Hereditary and familial colon cancer","volume":"138","author":"Jasperson","year":"2010","journal-title":"Gastroenterology"},{"key":"10.1016\/j.cgh.2020.12.007_bib2","doi-asserted-by":"crossref","first-page":"3898","DOI":"10.1093\/hmg\/ddu087","article-title":"Estimating the heritability of colorectal cancer","volume":"23","author":"Jiao","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.cgh.2020.12.007_bib3","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1016\/j.cgh.2016.12.041","article-title":"Familial risk and heritability of colorectal cancer in the Nordic twin study of cancer","volume":"15","author":"Graff","year":"2017","journal-title":"Clin Gastroenterol Hepatol"},{"key":"10.1016\/j.cgh.2020.12.007_bib4","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1093\/carcin\/bgy026","article-title":"GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12","volume":"39","author":"Tanikawa","year":"2018","journal-title":"Carcinogenesis"},{"key":"10.1016\/j.cgh.2020.12.007_bib5","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1056\/NEJMra012242","article-title":"Hereditary colorectal cancer","volume":"348","author":"Lynch","year":"2003","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.cgh.2020.12.007_bib6","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1056\/NEJMoa043146","article-title":"Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)","volume":"352","author":"Hampel","year":"2005","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.cgh.2020.12.007_bib7","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S0092-8674(00)81333-1","article-title":"Lessons from hereditary colorectal cancer","volume":"87","author":"Kinzler","year":"1996","journal-title":"Cell"},{"key":"10.1016\/j.cgh.2020.12.007_bib8","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1001\/jamaoncol.2018.0104","article-title":"Assessment of tumor sequencing as a replacement for Lynch syndrome screening and current molecular tests for patients with colorectal cancer","volume":"4","author":"Hampel","year":"2018","journal-title":"JAMA Oncol"},{"key":"10.1016\/j.cgh.2020.12.007_bib9","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1200\/JCO.2016.71.0012","article-title":"Cancer susceptibility gene mutations in individuals with colorectal cancer","volume":"35","author":"Yurgelun","year":"2017","journal-title":"J\u00a0Clin Oncol"},{"key":"10.1016\/j.cgh.2020.12.007_bib10","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1093\/jjco\/hyw178","article-title":"Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population","volume":"47","author":"Chika","year":"2017","journal-title":"Jpn J Clin Oncol"},{"key":"10.1016\/j.cgh.2020.12.007_bib11","doi-asserted-by":"crossref","first-page":"2161","DOI":"10.1002\/ijc.32044","article-title":"Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: high prevalence and unique molecular features","volume":"144","author":"Jiang","year":"2019","journal-title":"Int J Cancer"},{"key":"10.1016\/j.cgh.2020.12.007_bib12","first-page":"S2","article-title":"Overview of the BioBank Japan Project: study design and profile","volume":"27","author":"Nagai","year":"2017","journal-title":"J\u00a0Epidemiol"},{"key":"10.1016\/j.cgh.2020.12.007_bib13","first-page":"S36","article-title":"Characteristics and prognosis of Japanese colorectal cancer patients: the BioBank Japan Project","volume":"27","author":"Tamakoshi","year":"2017","journal-title":"J\u00a0Epidemiol"},{"key":"10.1016\/j.cgh.2020.12.007_bib14","doi-asserted-by":"crossref","first-page":"4083","DOI":"10.1038\/s41467-018-06581-8","article-title":"Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls","volume":"9","author":"Momozawa","year":"2018","journal-title":"Nat Commun"},{"key":"10.1016\/j.cgh.2020.12.007_bib15","doi-asserted-by":"crossref","first-page":"1721","DOI":"10.1002\/cncr.30498","article-title":"A\u00a0study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes","volume":"123","author":"Buys","year":"2017","journal-title":"Cancer"},{"key":"10.1016\/j.cgh.2020.12.007_bib16","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1002\/humu.23626","article-title":"Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion","volume":"39","author":"Abou Tayoun","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cgh.2020.12.007_bib17","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1101\/gr.6861907","article-title":"PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data","volume":"17","author":"Wang","year":"2007","journal-title":"Genome Res"},{"key":"10.1016\/j.cgh.2020.12.007_bib18","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.critrevonc.2006.07.004","article-title":"Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature","volume":"61","author":"Nieuwenhuis","year":"2007","journal-title":"Crit Rev Oncol Hematol"},{"key":"10.1016\/j.cgh.2020.12.007_bib19","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1038\/s41431-017-0067-1","article-title":"Phenotypic characteristics of colorectal cancer in BRCA1\/2 mutation carriers","volume":"26","author":"Grinshpun","year":"2018","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.cgh.2020.12.007_bib20","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/jnci\/djh008","article-title":"BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer","volume":"96","author":"Niell","year":"2004","journal-title":"J\u00a0Natl Cancer Inst"},{"key":"10.1016\/j.cgh.2020.12.007_bib21","doi-asserted-by":"crossref","first-page":"pky054","DOI":"10.1093\/jncics\/pky054","article-title":"Germline pathogenic variants in homologous recombination and DNA repair genes in an Asian cohort of young-onset colorectal cancer","volume":"2","author":"Toh","year":"2018","journal-title":"JNCI Cancer Spectrum"},{"key":"10.1016\/j.cgh.2020.12.007_bib22","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1038\/ng.955","article-title":"Mutations in BRIP1 confer high risk of ovarian cancer","volume":"43","author":"Rafnar","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.cgh.2020.12.007_bib23","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/ng1902","article-title":"Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles","volume":"38","author":"Seal","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.cgh.2020.12.007_bib24","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/humu.20216","article-title":"The 5\u2019 region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences","volume":"26","author":"Charbonnier","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cgh.2020.12.007_bib25","doi-asserted-by":"crossref","first-page":"1924","DOI":"10.1053\/j.gastro.2019.01.248","article-title":"RNA analysis identifies pathogenic duplications in MSH2 in patients with Lynch syndrome","volume":"156","author":"Conner","year":"2019","journal-title":"Gastroenterology"},{"key":"10.1016\/j.cgh.2020.12.007_bib26","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1053\/j.gastro.2008.04.026","article-title":"The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations","volume":"135","author":"Senter","year":"2008","journal-title":"Gastroenterology"},{"key":"10.1016\/j.cgh.2020.12.007_bib27","doi-asserted-by":"crossref","first-page":"4721","DOI":"10.1158\/0008-5472.CAN-03-2879","article-title":"Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation","volume":"64","author":"Nakagawa","year":"2004","journal-title":"Cancer Res"},{"key":"10.1016\/j.cgh.2020.12.007_bib28","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1093\/jnci\/djy148","article-title":"BRCA1 and BRCA2 gene mutations and colorectal cancer risk: systematic review and meta-analysis","volume":"110","author":"Oh","year":"2018","journal-title":"J\u00a0Natl Cancer Inst"},{"key":"10.1016\/j.cgh.2020.12.007_bib29","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/s12881-019-0812-0","article-title":"BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature","volume":"20","author":"Ali","year":"2019","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.cgh.2020.12.007_bib30","first-page":"1","article-title":"Building predictive models in R using the caret package","volume":"28","author":"Max","year":"2008","journal-title":"J\u00a0Stat Software"},{"key":"10.1016\/j.cgh.2020.12.007_bib31","doi-asserted-by":"crossref","first-page":"2909","DOI":"10.3892\/or.2013.2781","article-title":"Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients","volume":"30","author":"Terui","year":"2013","journal-title":"Oncol Rep"},{"key":"10.1016\/j.cgh.2020.12.007_bib32","doi-asserted-by":"crossref","first-page":"2677","DOI":"10.1093\/emboj\/17.9.2677","article-title":"hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSalpha","volume":"17","author":"Iaccarino","year":"1998","journal-title":"EMBO J"},{"key":"10.1016\/j.cgh.2020.12.007_bib33","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1086\/301883","article-title":"Genotype-phenotype correlations in attenuated adenomatous polyposis coli","volume":"62","author":"Soravia","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cgh.2020.12.007_bib34","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1038\/nm.3628","article-title":"Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice","volume":"20","author":"Wein","year":"2014","journal-title":"Nat Med"},{"key":"10.1016\/j.cgh.2020.12.007_bib35","doi-asserted-by":"crossref","first-page":"10722","DOI":"10.1073\/pnas.95.18.10722","article-title":"The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history","volume":"95","author":"Frayling","year":"1998","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.cgh.2020.12.007_bib36","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1053\/j.gastro.2014.01.022","article-title":"Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer","volume":"146","author":"Win","year":"2014","journal-title":"Gastroenterology"},{"key":"10.1016\/j.cgh.2020.12.007_bib37","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1136\/gut.52.2.304","article-title":"A\u00a0novel case with germline p53 gene mutation having concurrent multiple primary colon tumours","volume":"52","author":"Miyaki","year":"2003","journal-title":"Gut"},{"key":"10.1016\/j.cgh.2020.12.007_bib38","doi-asserted-by":"crossref","first-page":"212","DOI":"10.3343\/alm.2013.33.3.212","article-title":"A\u00a0case of late-onset Li-Fraumeni-like syndrome with unilateral breast cancer","volume":"33","author":"Cho","year":"2013","journal-title":"Ann Lab Med"},{"key":"10.1016\/j.cgh.2020.12.007_bib39","doi-asserted-by":"crossref","first-page":"8424","DOI":"10.1073\/pnas.1431692100","article-title":"Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis","volume":"100","author":"Kato","year":"2003","journal-title":"Proc Natl Acad Sci U S A"}],"container-title":["Clinical Gastroenterology and Hepatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1542356520316645?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1542356520316645?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T05:39:57Z","timestamp":1761543597000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1542356520316645"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":39,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["S1542356520316645"],"URL":"https:\/\/doi.org\/10.1016\/j.cgh.2020.12.007","relation":{},"ISSN":["1542-3565"],"issn-type":[{"value":"1542-3565","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Population-based Screening for Hereditary Colorectal Cancer Variants in Japan","name":"articletitle","label":"Article Title"},{"value":"Clinical Gastroenterology and Hepatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cgh.2020.12.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 by the AGA Institute. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}