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Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: results from a nationwide prospective cohort
Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Department of Clinical Genetics, Akademiska University Hospital, Uppsala, Sweden.
Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.
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2022 (Engelska)Ingår i: Genes, Chromosomes and Cancer, ISSN 1045-2257, E-ISSN 1098-2264, Vol. 61, nr 10, s. 585-591Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Approximately 5% of patients with colorectal cancer (CRC) have a Mendelian predisposition for the disease. Identification of the disease-causing 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 (n = 73) followed by familial adenomatous polyposis (n = 12) and MUTYH-associated polyposis (n = 8); the latter of which two patients presented with CRC before polyposis was evident. One patient with a history of adolescent-onset CRC and polyposis had biallelic disease-causing variants diagnostic for constitutional mismatch repair deficiency syndrome. Post-study review of detected variants of unknown clinical significance (n = 129) resulted in the reclassification of variants as likely benign (n = 59) or as diagnostic for Lynch syndrome (n = 2). 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.

Ort, förlag, år, upplaga, sidor
John Wiley & Sons, 2022. Vol. 61, nr 10, s. 585-591
Nyckelord [en]
colorectal cancer, genetic testing, hereditary, polyposis, syndrome, variant classification
Nationell ämneskategori
Cancer och onkologi Medicinsk genetik
Identifikatorer
URN: urn:nbn:se:umu:diva-194893DOI: 10.1002/gcc.23049ISI: 000789595100001PubMedID: 35430768Scopus ID: 2-s2.0-85129227163OAI: oai:DiVA.org:umu-194893DiVA, id: diva2:1665135
Tillgänglig från: 2022-06-07 Skapad: 2022-06-07 Senast uppdaterad: 2022-12-19Bibliografiskt granskad

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Silander, Gustav

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