Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing

• Hoofdauteurs: Ashish Kumar Singh (Auteur), Bente Talseth-Palmer (Auteur), Alexandre Xavier (Auteur), Rodney J. Scott (Auteur), Finn Drabløs (Auteur), Wenche Sjursen (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2023-06-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Background Hereditary genetic mutations causing predisposition to colorectal cancer are accountable for approximately 30% of all colorectal cancer cases. However, only a small fraction of these are high penetrant mutations occurring in DNA mismatch repair genes, causing one of several types...