{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T10:15:25Z","timestamp":1770977725988,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,16]],"date-time":"2020-06-16T00:00:00Z","timestamp":1592265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81472620"],"award-info":[{"award-number":["81472620"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Colorectal cancer (CRC) patients diagnosed with Lynch syndrome (LS) are recommended genetic testing. Increasing numbers of germline variants involved in homologous recombination have been identified in suspected LS patients. This study compared phenotypic the characteristics of suspected LS patients carrying <jats:italic>BRCA<\/jats:italic> and <jats:italic>BRCA\u2010<\/jats:italic>like variants with those of LS patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Forty\u2010two patients carrying pathogenic variants of DNA mismatch repair (<jats:italic>MMR<\/jats:italic>) genes (<jats:italic>MMR<\/jats:italic> group), 9 carrying <jats:italic>BRCA<\/jats:italic> variants, and 11 carrying <jats:italic>BRCA\u2010<\/jats:italic>like variants (<jats:italic>BRCA\/BRCA\u2010<\/jats:italic>like group) who met LS clinical criteria were enrolled in this study. Clinical characteristics, pedigrees, and survival rates were compared and <jats:italic>BRCA<\/jats:italic> variants were analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The earliest CRC\u2010onset age and tumor differentiation were higher in the <jats:italic>BRCA\/BRCA\u2010<\/jats:italic>like group than in the <jats:italic>MMR<\/jats:italic> group. Metachronous CRCs were more numerous in the <jats:italic>MMR<\/jats:italic> group, resulting in a higher progression\u2010free survival rate in the <jats:italic>BRCA\/BRCA\u2010<\/jats:italic>like group. Extra\u2010colorectal cancers were more frequently observed in the <jats:italic>BRCA\/BRCA\u2010<\/jats:italic>like group. <jats:italic>BRCA2<\/jats:italic> and <jats:italic>BRCA1<\/jats:italic> variants were clustered in exons 11 and 4\/7, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>BRCA<\/jats:italic> and <jats:italic>BRCA\u2010<\/jats:italic>like variants in CRC patients with LS showed moderate penetrance. <jats:italic>BRCA\/BRCA\u2010<\/jats:italic>like variant carriers had a higher risk for extra\u2010colorectal cancers. Surveillance of susceptible organs other than the intestine should be performed for probands and affected family members.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1359","type":"journal-article","created":{"date-parts":[[2020,6,17]],"date-time":"2020-06-17T05:31:18Z","timestamp":1592371878000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Comparison of suspected Lynch syndrome patients carrying <i>BRCA<\/i> and <i>BRCA\u2010<\/i>like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses"],"prefix":"10.1002","volume":"8","author":[{"given":"Yun","family":"Xu","sequence":"first","affiliation":[{"name":"Department of Colorectal Surgery Fudan University Shanghai Cancer Center Shanghai China"},{"name":"Department of Oncology Shanghai Medical College Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Colorectal Surgery Fudan University Shanghai Cancer Center Shanghai China"},{"name":"Department of Oncology Shanghai Medical College Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhimin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Genetics Shanghai\u2010MOST Key Laboratory of Health and Disease Genomics Chinese National Human Genome Center and Shanghai Academy of Science &amp; 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