Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.
Adolescent
Adult
Aged
Aged, 80 and over
Cohort Studies
Colorectal Neoplasms
/ genetics
DNA Methylation
DNA Mutational Analysis
Early Detection of Cancer
Genetic Predisposition to Disease
Humans
Middle Aged
Promoter Regions, Genetic
Receptor-Like Protein Tyrosine Phosphatases, Class 3
/ genetics
Young Adult
cancer genetics
cancer predisposition
early-onset colorectal cancer
familial colorectal cancer
germline mutation
hereditary cancer
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
22
10
2019
revised:
30
01
2020
accepted:
19
05
2020
pubmed:
26
5
2020
medline:
11
11
2021
entrez:
26
5
2020
Statut:
ppublish
Résumé
Genome-wide approaches applied for the identification of new hereditary colorectal cancer (CRC) genes, identified several potential causal genes, including RPS20, IL12RB1, LIMK2, POLE2, MRE11, POT1, FAN1, WIF1, HNRNPA0, SEMA4A, FOCAD, PTPN12, LRP6, POLQ, BLM, MCM9, and the epigenetic inactivation of PTPRJ. Here we attempted to validate the association between variants in these genes and nonpolyposis CRC by performing a mutational screening of the genes and PTPRJ promoter methylation analysis in 473 familial/early-onset CRC cases, a systematic review of the published cases, and assessment of allele frequencies in control population. In the studied cohort, 24 (5%) carriers of (predicted) deleterious variants in the studied genes and no constitutional PTPRJ epimutations were identified. Assessment of allele frequencies in controls compared with familial/early-onset patients with CRC showed association with increased nonpolyposis CRC risk of disruptive variants in RPS20, IL12RB1, POLE2, MRE11 and POT1, and of FAN1 c.149T>G (p.Met50Arg). Lack of association was demonstrated for LIMK2, PTPN12, LRP6, PTPRJ, POLQ, BLM, MCM9 and FOCAD variants. Additional studies are required to provide conclusive evidence for SEMA4A, WIF1, HNRNPA0 c.-110G>C, and FOCAD large deletions.
Substances chimiques
PTPRJ protein, human
EC 3.1.3.48
Receptor-Like Protein Tyrosine Phosphatases, Class 3
EC 3.1.3.48
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1563-1576Informations de copyright
© 2020 Wiley Periodicals LLC.
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