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

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...

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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.
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