Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.

Humans Female Breast Neoplasms / diagnosis Genetic Predisposition to Disease Retrospective Studies Risk Assessment / methods Risk Factors
Genetic Predisposition to Disease Medical Oncology Polymorphism, Genetic

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
04 2023
Historique:
received: 10 02 2022
accepted: 19 07 2022
pubmed: 23 9 2022
medline: 23 3 2023
entrez: 22 9 2022
Statut: ppublish

Résumé

Common low-risk variants are presently not used to guide clinical management of familial breast cancer (BC). We explored the additive impact of a 313-variant-based Polygenic Risk Score (PRS We included 3918 BC cases from 3492 Dutch non- The family history-adjusted PRS Our results support the application of the PRS

Sections du résumé

BACKGROUND
Common low-risk variants are presently not used to guide clinical management of familial breast cancer (BC). We explored the additive impact of a 313-variant-based Polygenic Risk Score (PRS
METHODS
We included 3918 BC cases from 3492 Dutch non-
RESULTS
The family history-adjusted PRS
CONCLUSIONS
Our results support the application of the PRS

Identifiants

DOI: 10.1136/jmg-2022-108502 PMID: 36137616
pubmed: 36137616
pii: jmg-2022-108502
doi: 10.1136/jmg-2022-108502
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

327-336

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: AL is listed as an inventor of BOADICEA V.5, which is commercialised through Cambridge Enterprise, part of Cambridge University.

Auteurs

Inge M M Lakeman (IMM)

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
ORCID: 0000-0002-2990-7154

Mar D M Rodríguez-Girondo (MDM)

Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands.

Andrew Lee (A)

Public Health and Primary Care, University of Cambridge Centre for Cancer Genetic Epidemiology, Cambridge, UK.
ORCID: 0000-0003-0677-0252

Nandi Celosse (N)

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Merel E Braspenning (ME)

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Klaartje van Engelen (K)

Department of Human Genetics, Amsterdam UMC Locatie VUmc, Amsterdam, The Netherlands.

Irma van de Beek (I)

Department of Human Genetics, Amsterdam UMC Locatie VUmc, Amsterdam, The Netherlands.

Annemiek H van der Hout (AH)

Department of Clinical Genetics, University Medical Centre Groningen, Groningen, The Netherlands.

Encarna B Gómez García (EB)

Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.

Arjen R Mensenkamp (AR)

Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.
ORCID: 0000-0003-3805-877X

Margreet G E M Ausems (MGEM)

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

Maartje J Hooning (MJ)

Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, The Netherlands.

Muriel A Adank (MA)

Family Cancer Clinic, Antoni van Leeuwenhoek Netherlands Cancer Institute, Amsterdam, The Netherlands.

Antoinette Hollestelle (A)

Department of Medical Oncology, Erasmus MC Cancer Institute, Erasmus Medical Center, Rotterdam, The Netherlands.

Marjanka K Schmidt (MK)

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Division of Psychosocial Research and Epidemiology, Antoni van Leeuwenhoek Netherlands Cancer Institute, Amsterdam, The Netherlands.

Christi J van Asperen (CJ)

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Peter Devilee (P)

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands p.devilee@lumc.nl.
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
ORCID: 0000-0002-8023-2009

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Clinical applicability of the Polygenic Risk...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Maladies du sein › Tumeurs du sein › Clinical applicability of the Polygenic Risk...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Clinical applicability of the Polygenic Risk...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › Clinical applicability of the Polygenic Risk...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Appréciation des risques › Clinical applicability of the Polygenic Risk...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Statistiques comme sujet › Probabilité › Risque › Facteurs de risque › Clinical applicability of the Polygenic Risk...