{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T10:30:20Z","timestamp":1789122620486,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T00:00:00Z","timestamp":1618963200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Germline mutations in the DNA mismatch repair (MMR) genes cause Lynch syndrome (LS). In this study, we identified and characterized a novel SINE\u2010VNTR\u2010Alu (SVA) insertion in exon 12 of <jats:italic>MSH2<\/jats:italic> in an individual with early\u2010onset colorectal cancer and a very strong LS family history. RT\u2010PCR analysis indicated a larger aberrant <jats:italic>MSH2<\/jats:italic> transcript in one of the family members. MSK\u2010IMPACT next\u2010generation sequencing and long\u2010range PCR analyses revealed an insertion in <jats:italic>MSH2<\/jats:italic> exon 12 at the c.1972 position in an antisense orientation. The insertion was further characterized as an SVA element approximately 3\u2009kb in length, belonging to the SVA_F1 family of retrotransposons. This variant also segregated with LS related cancers in four affected family members in this family. Based on this evidence, this <jats:italic>MSH2<\/jats:italic> SVA insertion is considered pathogenic.<\/jats:p>","DOI":"10.1002\/gcc.22950","type":"journal-article","created":{"date-parts":[[2021,4,6]],"date-time":"2021-04-06T11:54:53Z","timestamp":1617710093000},"page":"571-576","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Insertion of an <scp>SVA<\/scp> element in <scp><i>MSH2<\/i><\/scp> as a novel cause of Lynch syndrome"],"prefix":"10.1002","volume":"60","author":[{"given":"Ciyu","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yirong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magan","family":"Trottier","sequence":"additional","affiliation":[{"name":"Department of Medicine Memorial Sloan Kettering Cancer Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Farrell","sequence":"additional","affiliation":[{"name":"Department of Cancer Genetics Mater Private Hospital  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikas K.","family":"Rai","sequence":"additional","affiliation":[{"name":"Department of Pathology Memorial Sloan Kettering Cancer Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"E. 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