Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-
Adult
Aged
Aged, 80 and over
Alleles
Biomarkers, Tumor
Breast Neoplasms
/ diagnosis
Case-Control Studies
Clinical Decision-Making
Disease Management
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Middle Aged
Pedigree
Polymorphism, Single Nucleotide
Prognosis
Proportional Hazards Models
Risk Assessment
Young Adult
cancer: breast
clinical genetics
genetic epidemiology
genetic screening/counselling
polygenic risk score
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
08
02
2019
revised:
29
03
2019
accepted:
20
04
2019
pubmed:
13
6
2019
medline:
12
6
2020
entrez:
13
6
2019
Statut:
ppublish
Résumé
The currently known breast cancer-associated single nucleotide polymorphisms (SNPs) are presently not used to guide clinical management. We explored whether a genetic test that incorporates a SNP-based polygenic risk score (PRS) is clinically meaningful in non- 101 non- The mean sPRS for cases and their unaffected relatives was 0.70 (SD=0.9) and 0.53 (SD=0.9), respectively. A significant association was found between sPRS and breast cancer, HR=1.16, 95% CI 1.03 to 1.28, p=0.026. Addition of the sPRS to risk prediction based on family history alone changed screening recommendations in 11.5%, 14.7% and 19.8 % of the women according to breast screening guidelines from the USA (National Comprehensive Cancer Network), UK (National Institute for Health and Care Excellence and the Netherlands (Netherlands Comprehensive Cancer Organisation), respectively. Our results support the application of the PRS in risk prediction and clinical management of women from genetically unexplained breast cancer families.
Sections du résumé
BACKGROUND
The currently known breast cancer-associated single nucleotide polymorphisms (SNPs) are presently not used to guide clinical management. We explored whether a genetic test that incorporates a SNP-based polygenic risk score (PRS) is clinically meaningful in non-
METHODS
101 non-
RESULTS
The mean sPRS for cases and their unaffected relatives was 0.70 (SD=0.9) and 0.53 (SD=0.9), respectively. A significant association was found between sPRS and breast cancer, HR=1.16, 95% CI 1.03 to 1.28, p=0.026. Addition of the sPRS to risk prediction based on family history alone changed screening recommendations in 11.5%, 14.7% and 19.8 % of the women according to breast screening guidelines from the USA (National Comprehensive Cancer Network), UK (National Institute for Health and Care Excellence and the Netherlands (Netherlands Comprehensive Cancer Organisation), respectively.
CONCLUSION
Our results support the application of the PRS in risk prediction and clinical management of women from genetically unexplained breast cancer families.
Identifiants
pubmed: 31186341
pii: jmedgenet-2019-106072
doi: 10.1136/jmedgenet-2019-106072
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
581-589Informations de copyright
© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.