Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.

Breast cancer Cancer prevention Genetic testing Hereditary breast and ovarian cancer syndrome

Journal

Breast (Edinburgh, Scotland)
ISSN: 1532-3080
Titre abrégé: Breast
Pays: Netherlands
ID NLM: 9213011

Informations de publication

Date de publication:
29 Nov 2023
Historique:
received: 05 09 2023
revised: 24 11 2023
accepted: 26 11 2023
medline: 8 12 2023
pubmed: 8 12 2023
entrez: 7 12 2023
Statut: aheadofprint

Résumé

Breast cancer (BC) risk prediction models consider cancer family history (FH) and germline pathogenic variants (PVs) in risk genes. It remains elusive to what extent complementation with polygenic risk score (PRS) and non-genetic risk factor (NGRFs) data affects individual intensified breast surveillance (IBS) recommendations according to European guidelines. For 425 cancer-free women with cancer FH (mean age 40·6 years, range 21-74), recruited in France, Germany and the Netherlands, germline PV status, NGRFs, and a 306 variant-based PRS (PRS Of the women with non-informative PV status, including PRS For women who tested non-informative/negative, PRS and NGRFs have a considerable impact on IBS recommendations. Combined consideration of eLTRs and e10YRs allows personalizing IBS starting age. Horizon 2020, German Cancer Aid, Federal Ministry of Education and Research, Köln Fortune.

Sections du résumé

BACKGROUND BACKGROUND
Breast cancer (BC) risk prediction models consider cancer family history (FH) and germline pathogenic variants (PVs) in risk genes. It remains elusive to what extent complementation with polygenic risk score (PRS) and non-genetic risk factor (NGRFs) data affects individual intensified breast surveillance (IBS) recommendations according to European guidelines.
METHODS METHODS
For 425 cancer-free women with cancer FH (mean age 40·6 years, range 21-74), recruited in France, Germany and the Netherlands, germline PV status, NGRFs, and a 306 variant-based PRS (PRS
FINDINGS RESULTS
Of the women with non-informative PV status, including PRS
INTERPRETATION CONCLUSIONS
For women who tested non-informative/negative, PRS and NGRFs have a considerable impact on IBS recommendations. Combined consideration of eLTRs and e10YRs allows personalizing IBS starting age.
FUNDING BACKGROUND
Horizon 2020, German Cancer Aid, Federal Ministry of Education and Research, Köln Fortune.

Identifiants

DOI: 10.1016/j.breast.2023.103615 PMID: 38061307
pubmed: 38061307
pii: S0960-9776(23)00741-5
doi: 10.1016/j.breast.2023.103615
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

103615

Informations de copyright

Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare no conflicts of interest.

Auteurs

Anja Tüchler (A)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Antoine De Pauw (A)

Institut Curie, Department of Genetics, Paris, France; Université PSL, Paris, France.

Corinna Ernst (C)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Amélie Anota (A)

Department of Clinical Research and Innovation, Centre Léon Bérard, Lyon, France; Human and Social Sciences Department, Centre Léon Bérard, Lyon, France; French National Platform Quality of Life and Cancer, Centre Léon Bérard, Lyon, France.

Inge M M Lakeman (IMM)

Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.

Julia Dick (J)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Nienke van der Stoep (N)

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

Christi J van Asperen (CJ)

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

Monika Maringa (M)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Natalie Herold (N)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Britta Blümcke (B)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Robert Remy (R)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Anke Westerhoff (A)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Denise J Stommel-Jenner (DJ)

Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands.

Eléonore Frouin (E)

Université PSL, Paris, France; Clinical Bioinformatics Unit, Institut Curie, Paris, France.

Lisa Richters (L)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Lisa Golmard (L)

Institut Curie, Department of Genetics, Paris, France; Université PSL, Paris, France.

Nadine Kütting (N)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Chrystelle Colas (C)

Institut Curie, Department of Genetics, Paris, France; Université PSL, Paris, France; Institut Curie, Inserm U830, Paris, France.

Barbara Wappenschmidt (B)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Kerstin Rhiem (K)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Peter Devilee (P)

Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands; Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.

Dominique Stoppa-Lyonnet (D)

Institut Curie, Department of Genetics, Paris, France; Institut Curie, Inserm U830, Paris, France; Université Paris Cité, Paris, France.

Rita K Schmutzler (RK)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.

Eric Hahnen (E)

Center for Familial Breast and Ovarian and Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany. Electronic address: eric.hahnen@uk-koeln.de.

Classifications MeSH