Assessment of a Polygenic Risk Score for Colorectal Cancer to Predict Risk of Lynch Syndrome Colorectal Cancer.
Colorectal Neoplasms
/ ethnology
Colorectal Neoplasms, Hereditary Nonpolyposis
/ ethnology
DNA Mismatch Repair
/ genetics
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
Polymorphism, Single Nucleotide
Risk Assessment
Risk Factors
Journal
JNCI cancer spectrum
ISSN: 2515-5091
Titre abrégé: JNCI Cancer Spectr
Pays: England
ID NLM: 101721827
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
received:
03
08
2020
revised:
15
12
2020
accepted:
04
03
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
1
5
2021
Statut:
epublish
Résumé
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
Identifiants
pubmed: 33928216
doi: 10.1093/jncics/pkab022
pii: pkab022
pmc: PMC8062848
doi:
Substances chimiques
DNA-Binding Proteins
0
EPCAM protein, human
0
Epithelial Cell Adhesion Molecule
0
G-T mismatch-binding protein
0
MLH1 protein, human
0
PMS2 protein, human
EC 3.6.1.-
MSH2 protein, human
EC 3.6.1.3
Mismatch Repair Endonuclease PMS2
EC 3.6.1.3
MutL Protein Homolog 1
EC 3.6.1.3
MutS Homolog 2 Protein
EC 3.6.1.3
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Subventions
Organisme : NCI NIH HHS
ID : R01 CA114347
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA244588
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA122839
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA167551
Pays : United States
Organisme : NCI NIH HHS
ID : P20 CA252728
Pays : United States
Informations de copyright
© The Author(s) 2021. Published by Oxford University Press.
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