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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Bibliographic Details
Main Authors: Ashish Kumar Singh, Bente Talseth-Palmer, Alexandre Xavier, Rodney J. Scott, Finn Drabløs, Wenche Sjursen
Format: Article
Language:English
Published: BMC 2023-06-01
Series:BMC Medical Genomics
Subjects:
Whole exome sequencing (WES)
Colorectal cancer (CRC)
Lynch syndrome (LS)
Familial colorectal cancer Type X (FCCTX)
Mismatch repair (MMR)
Copy number variation (CNV)
Online Access:https://doi.org/10.1186/s12920-023-01562-3

Internet

https://doi.org/10.1186/s12920-023-01562-3

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