Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors.
clinical decision-making
early diagnosis
genetic counseling
genetics
public health
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
received:
07
04
2021
accepted:
18
05
2021
pubmed:
1
12
2021
medline:
30
6
2022
entrez:
30
11
2021
Statut:
ppublish
Résumé
Epithelial tubo-ovarian cancer (EOC) has high mortality partly due to late diagnosis. Prevention is available but may be associated with adverse effects. A multifactorial risk model based on known genetic and epidemiological risk factors (RFs) for EOC can help identify women at higher risk who could benefit from targeted screening and prevention. We developed a multifactorial EOC risk model for women of European ancestry incorporating the effects of pathogenic variants (PVs) in Based on a currently available PRS for EOC that explains 5% of the EOC polygenic variance, the estimated lifetime risks under the multifactorial model in the general population vary from 0.5% to 4.6% for the first to 99th percentiles of the EOC risk distribution. The corresponding range for women with an affected first-degree relative is 1.9%-10.3%. Based on the combined risk distribution, 33% of This multifactorial risk model can facilitate stratification, in particular among women with FH of cancer and/or moderate-risk and high-risk PVs. The model is available via the CanRisk Tool (www.canrisk.org).
Sections du résumé
BACKGROUND
Epithelial tubo-ovarian cancer (EOC) has high mortality partly due to late diagnosis. Prevention is available but may be associated with adverse effects. A multifactorial risk model based on known genetic and epidemiological risk factors (RFs) for EOC can help identify women at higher risk who could benefit from targeted screening and prevention.
METHODS
We developed a multifactorial EOC risk model for women of European ancestry incorporating the effects of pathogenic variants (PVs) in
RESULTS
Based on a currently available PRS for EOC that explains 5% of the EOC polygenic variance, the estimated lifetime risks under the multifactorial model in the general population vary from 0.5% to 4.6% for the first to 99th percentiles of the EOC risk distribution. The corresponding range for women with an affected first-degree relative is 1.9%-10.3%. Based on the combined risk distribution, 33% of
CONCLUSION
This multifactorial risk model can facilitate stratification, in particular among women with FH of cancer and/or moderate-risk and high-risk PVs. The model is available via the CanRisk Tool (www.canrisk.org).
Identifiants
pubmed: 34844974
pii: jmedgenet-2021-107904
doi: 10.1136/jmedgenet-2021-107904
pmc: PMC9252860
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
632-643Subventions
Organisme : Cancer Research UK
ID : A12677
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0801228
Pays : United Kingdom
Organisme : Medical Research Council
ID : G9901012
Pays : United Kingdom
Informations de copyright
© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: DFE, ACA, APC, AL and TC are listed as creators of the BOADICEA model, which has been licensed to Cambridge Enterprise for commercialisation. UM has shares in Abcodia awarded to her by UCL.
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