Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.
Genetics, Medical
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
14 Aug 2023
14 Aug 2023
Historique:
received:
02
04
2023
accepted:
28
07
2023
medline:
15
8
2023
pubmed:
15
8
2023
entrez:
14
8
2023
Statut:
aheadofprint
Résumé
Low-impact genetic variants identified in population-based genetic studies are not routinely measured as part of clinical genetic testing in familial breast cancer (BC). We studied the consequences of integrating an established Polygenic Risk Score (PRS) (BCAC 313, PRS We developed an add-on sequencing panel to capture 313 risk variants in addition to the clinical screening of hereditary BC genes. Index patients with no pathogenic variant from 87 families, and 1000 population controls, were included in comparative PRS calculations. Including detailed family history, sequencing results and tumour pathology information, we used BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) V.6 to estimate contralateral and lifetime risks Women with BC but no pathogenic variants in hereditary BC genes have a higher PRS Our results show the potential impact of incorporating PRS
Sections du résumé
BACKGROUND
BACKGROUND
Low-impact genetic variants identified in population-based genetic studies are not routinely measured as part of clinical genetic testing in familial breast cancer (BC). We studied the consequences of integrating an established Polygenic Risk Score (PRS) (BCAC 313, PRS
METHODS
METHODS
We developed an add-on sequencing panel to capture 313 risk variants in addition to the clinical screening of hereditary BC genes. Index patients with no pathogenic variant from 87 families, and 1000 population controls, were included in comparative PRS calculations. Including detailed family history, sequencing results and tumour pathology information, we used BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) V.6 to estimate contralateral and lifetime risks
RESULTS
RESULTS
Women with BC but no pathogenic variants in hereditary BC genes have a higher PRS
CONCLUSIONS
CONCLUSIONS
Our results show the potential impact of incorporating PRS
Identifiants
pubmed: 37580114
pii: jmg-2023-109311
doi: 10.1136/jmg-2023-109311
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.