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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.

Genes, chromosomes & cancer - 1 Oct 2022

Svensson Sara, Zagoras Theofanis, Aravidis Christos, Askmalm Marie Stenmark, Björck Erik, Borg Åke, Kuchinskaya Ekaterina, Nilbert Mef, Nordling Margareta, Rohlin Anna, Silander Gustav, Lagerstedt-Robinson Kristina, Gebre-Medhin Samuel

Abstract excerpt

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...

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Identifiers

PMID: 35430768
DOI: 10.1002/gcc.23049
PMCID: PMC9540764

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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