{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T05:06:16Z","timestamp":1779858376098,"version":"3.53.1"},"reference-count":33,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Lynch syndrome (LS) is an inherited cancer predisposition syndrome associated with an increased risk of several malignancies, particularly colorectal cancer (CRC). The diagnosis of LS is typically based on family history and confirmed by genetic testing, most commonly involving pathogenic variants in mismatch repair genes, including\n                    <jats:italic>MLH1<\/jats:italic>\n                    ,\n                    <jats:italic>MSH2<\/jats:italic>\n                    ,\n                    <jats:italic>MSH6<\/jats:italic>\n                    , and\n                    <jats:italic>PMS2<\/jats:italic>\n                    . We report a proband who developed CRC at the age of 52\u00a0years and had a family history suggestive of LS. Immunohistochemical analysis revealed loss of MLH1 and PMS2 expression in the proband, and isolated loss of PMS2 expression in his maternal cousin. Whole-exome sequencing followed by Sanger sequencing identified a heterozygous\n                    <jats:italic>MLH1<\/jats:italic>\n                    c.1652A&gt;C (p.Asn551Thr) variant in the proband, his maternal cousin, and four additional affected family members. Based on the clinical, pathological, and genetic findings, the extended family was diagnosed with LS. Taken together,\n                    <jats:italic>MLH1<\/jats:italic>\n                    c.1652A&gt;C (p.N551T) variant may contribute to carcinogenesis, and its co-segregation with LS in this family provides supportive evidence for its potential pathogenicity.\n                  <\/jats:p>","DOI":"10.1515\/biol-2025-1275","type":"journal-article","created":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T04:56:41Z","timestamp":1779857801000},"source":"Crossref","is-referenced-by-count":0,"title":["Lynch syndrome with\n                    <i>MLH1<\/i>\n                    germline variant in an extended family: a case report"],"prefix":"10.1515","volume":"21","author":[{"given":"Zhipei","family":"Duan","sequence":"first","affiliation":[{"name":"Department of Oncology , Suzhou Ninth People\u2019s Hospital, Suzhou Ninth Hospital Affiliated to Soochow University , Suzhou 215200 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chengru","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Oncology , Suzhou Ninth People\u2019s Hospital, Suzhou Ninth Hospital Affiliated to Soochow University , Suzhou 215200 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tinghua","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Oncology , Suzhou Ninth People\u2019s Hospital, Suzhou Ninth Hospital Affiliated to Soochow University , Suzhou 215200 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0659-8723","authenticated-orcid":false,"given":"Chao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Oncology , Suzhou Ninth People\u2019s Hospital, Suzhou Ninth Hospital Affiliated to Soochow University , Suzhou 215200 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Oncology , Suzhou Ninth People\u2019s Hospital, Suzhou Ninth Hospital Affiliated to Soochow University , Suzhou 215200 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,4,20]]},"reference":[{"key":"2026052704563610529_j_biol-2025-1275_ref_001","doi-asserted-by":"crossref","unstructured":"Heiser, CN, Simmons, AJ, Revetta, F, McKinley, ET, Ramirez-Solano, MA, Wang, J, et al.. 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