{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:03:31Z","timestamp":1784592211766,"version":"3.55.0"},"reference-count":34,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,5,2]],"date-time":"2022-05-02T00:00:00Z","timestamp":1651449600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Approximately 5% of patients with colorectal cancer (CRC) have a Mendelian predisposition for the disease. Identification of the disease\u2010causing genetic variant enables carrier testing and tailored cancer prevention within affected families. To determine the panorama and genetic variation of Mendelian CRC syndromes among referrals at the cancer genetics clinics in Sweden, 850 patients clinically selected for CRC genetic investigation were included in a prospective study that tested for all major hereditary polyposis and nonpolyposis CRC conditions. Genetically defined syndromes were diagnosed in 11% of the patients. Lynch syndrome was predominant (<jats:italic>n =<\/jats:italic>\u00a073) followed by familial adenomatous polyposis (<jats:italic>n =<\/jats:italic>\u00a012) and <jats:italic>MUTYH<\/jats:italic>\u2010associated polyposis (<jats:italic>n =<\/jats:italic>\u00a08); the latter of which two patients presented with CRC before polyposis was evident. One patient with a history of adolescent\u2010onset CRC and polyposis had biallelic disease\u2010causing variants diagnostic for constitutional mismatch repair deficiency syndrome. Post\u2010study review of detected variants of unknown clinical significance (<jats:italic>n =<\/jats:italic>\u00a0129) resulted in the reclassification of variants as likely benign (<jats:italic>n =<\/jats:italic>\u00a059) or as diagnostic for Lynch syndrome (<jats:italic>n =<\/jats:italic>\u00a02). Our results reveal the panorama of Mendelian CRC syndromes at the cancer genetics clinics in Sweden and show that unified testing for polyposis and nonpolyposis CRC conditions as well as regular reexamination of sequence data improve the diagnostic yield.<\/jats:p>","DOI":"10.1002\/gcc.23049","type":"journal-article","created":{"date-parts":[[2022,4,17]],"date-time":"2022-04-17T20:09:46Z","timestamp":1650226186000},"page":"585-591","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Merged testing for colorectal cancer syndromes and re\u2010evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort"],"prefix":"10.1002","volume":"61","author":[{"given":"Sara","family":"Svensson","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine Lund University  Lund Sweden"},{"name":"Department of Clinical Genetics and Pathology Office 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