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

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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Main Authors: Ashish Kumar Singh (Author), Bente Talseth-Palmer (Author), Alexandre Xavier (Author), Rodney J. Scott (Author), Finn Drabløs (Author), Wenche Sjursen (Author)
Format: Book
Published: BMC, 2023-06-01T00:00:00Z.
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3rd Floor Main Library

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