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Assessment of a Polygenic Risk Score for Colorectal Cancer to Predict Risk of Lynch Syndrome Colorectal Cancer.
- Source :
-
JNCI cancer spectrum [JNCI Cancer Spectr] 2021 Mar 08; Vol. 5 (2). Date of Electronic Publication: 2021 Mar 08 (Print Publication: 2021). - Publication Year :
- 2021
-
Abstract
- It was not known whether the polygenic risk scores (PRSs) that predict colorectal cancer could predict colorectal cancer for people with inherited pathogenic variants in DNA mismatch repair genes-people with Lynch syndrome. We tested a PRS comprising 107 established single-nucleotide polymorphisms associated with colorectal cancer in European populations for 826 European-descent carriers of pathogenic variants in DNA mismatch repair genes (293 MLH1 , 314 MSH2 , 126 MSH6 , 71 PMS2 , and 22 EPCAM ) from the Colon Cancer Family Registry, of whom 504 had colorectal cancer. There was no evidence of an association between the PRS and colorectal cancer risk, irrespective of which DNA mismatch repair gene was mutated, or sex (all 2-sided Pā > ā .05). The hazard ratio per standard deviation of the PRS for colorectal cancer was 0.97 (95% confidence interval = 0.88 to 1.06; 2-sided Pā = ā .51). Whereas PRSs are predictive of colorectal cancer in the general population, they do not predict Lynch syndrome colorectal cancer.<br /> (© The Author(s) 2021. Published by Oxford University Press.)
- Subjects :
- Colorectal Neoplasms ethnology
Colorectal Neoplasms genetics
Colorectal Neoplasms, Hereditary Nonpolyposis ethnology
DNA-Binding Proteins genetics
Epithelial Cell Adhesion Molecule genetics
Europe ethnology
Female
Humans
Male
Middle Aged
Mismatch Repair Endonuclease PMS2 genetics
MutL Protein Homolog 1 genetics
MutS Homolog 2 Protein genetics
Risk Assessment
Risk Factors
Colorectal Neoplasms, Hereditary Nonpolyposis genetics
DNA Mismatch Repair genetics
Polymorphism, Single Nucleotide
Subjects
Details
- Language :
- English
- ISSN :
- 2515-5091
- Volume :
- 5
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- JNCI cancer spectrum
- Publication Type :
- Academic Journal
- Accession number :
- 33928216
- Full Text :
- https://doi.org/10.1093/jncics/pkab022