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

• 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.
• Subjects: article
• Online Access: 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...