PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.

Journal

NPJ breast cancer
ISSN: 2374-4677
Titre abrégé: NPJ Breast Cancer
Pays: United States
ID NLM: 101674891

Informations de publication

Date de publication:
12 May 2023
Historique:
received: 13 11 2022
accepted: 28 04 2023
medline: 13 5 2023
pubmed: 13 5 2023
entrez: 12 5 2023
Statut: epublish

Résumé

We assessed the PREDICT v 2.2 for prognosis of breast cancer patients with pathogenic germline BRCA1 and BRCA2 variants, using follow-up data from 5453 BRCA1/2 carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC). PREDICT for estrogen receptor (ER)-negative breast cancer had modest discrimination for BRCA1 carrier patients overall (Gönen & Heller unbiased concordance 0.65 in CIMBA, 0.64 in BCAC), but it distinguished clearly the high-mortality group from lower risk categories. In an analysis of low to high risk categories by PREDICT score percentiles, the observed mortality was consistently lower than the expected mortality, but the confidence intervals always included the calibration slope. Altogether, our results encourage the use of the PREDICT ER-negative model in management of breast cancer patients with germline BRCA1 variants. For the PREDICT ER-positive model, the discrimination was slightly lower in BRCA2 variant carriers (concordance 0.60 in CIMBA, 0.65 in BCAC). Especially, inclusion of the tumor grade distorted the prognostic estimates. The breast cancer mortality of BRCA2 carriers was underestimated at the low end of the PREDICT score distribution, whereas at the high end, the mortality was overestimated. These data suggest that BRCA2 status should also be taken into consideration with tumor characteristics, when estimating the prognosis of ER-positive breast cancer patients.

Identifiants

DOI: 10.1038/s41523-023-00546-x PMID: 37173335 PMC: PMC10182045
pubmed: 37173335
doi: 10.1038/s41523-023-00546-x
pii: 10.1038/s41523-023-00546-x
pmc: PMC10182045
doi:

Types de publication

Journal Article

Langues

eng

Pagination

37

Subventions

Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Cancer Research UK
ID : 23382
Pays : United Kingdom
Organisme : Cancer Research UK
ID : 26886
Pays : United Kingdom

Informations de copyright

© 2023. The Author(s).

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Auteurs

Taru A Muranen (TA)

Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland. taru.a.muranen@helsinki.fi.
Research Program in Systems Oncology, Department of Biochemistry and Developmental Biology, University of Helsinki, Helsinki, Finland. taru.a.muranen@helsinki.fi.
ORCID: 0000-0002-5895-1808

Anna Morra (A)

Division of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, the Netherlands.

Sofia Khan (S)

Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Department of Genetics, HUSLAB, HUS Diagnostic Center, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Individualized Drug Therapy Research Program, University of Helsinki, Helsinki, Finland.
Department of Clinical Pharmacology, University of Helsinki, Helsinki, Finland.
ORCID: 0000-0003-4185-8882

Daniel R Barnes (DR)

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

Manjeet K Bolla (MK)

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

Joe Dennis (J)

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
ORCID: 0000-0003-4591-1214

Renske Keeman (R)

Division of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, the Netherlands.
ORCID: 0000-0002-5452-9933

Goska Leslie (G)

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
ORCID: 0000-0001-5756-6222

Michael T Parsons (MT)

Population Health Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
ORCID: 0000-0003-3242-8477

Qin Wang (Q)

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

Thomas U Ahearn (TU)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
ORCID: 0000-0003-0771-7752

Kristiina Aittomäki (K)

Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.

Irene L Andrulis (IL)

Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
ORCID: 0000-0002-4226-6435

Banu K Arun (BK)

Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Sabine Behrens (S)

Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
ORCID: 0000-0002-9714-104X

Katarzyna Bialkowska (K)

Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.

Stig E Bojesen (SE)

Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Nicola J Camp (NJ)

Department of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.

Jenny Chang-Claude (J)

Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Kamila Czene (K)

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

Peter Devilee (P)

Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.
Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.
ORCID: 0000-0002-8023-2009

Susan M Domchek (SM)

Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.

Alison M Dunning (AM)

Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.

Christoph Engel (C)

Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
LIFE - Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany.

D Gareth Evans (DG)

Prevent Breast Cancer Research Unit, The Nightingale Centre, Manchester University Hospital Foundation NHS Trust, Manchester, UK.
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Clinical Genetics Service, Manchester Centre for Genomic Medicine, Manchester University Hospitals Foundation Trust, Manchester, UK.
Manchester Breast Centre, Oglesby Cancer Research Centre, The Christie, University of Manchester, Manchester, UK.
ORCID: 0000-0002-8482-5784

Manuela Gago-Dominguez (M)

Health Research Institute of Santiago de Compostela Foundation (FIDIS), SERGAS, Cancer Genetics and Epidemiology Group Santiago de Compostela, Santiago de Compostela, Spain.

Montserrat García-Closas (M)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
ORCID: 0000-0003-1033-2650

Anne-Marie Gerdes (AM)

Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

Gord Glendon (G)

Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.

Pascal Guénel (P)

Team "Exposome and Heredity", CESP, Gustave Roussy, INSERM, University Paris-Saclay, UVSQ, Villejuif, France.

Eric Hahnen (E)

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

Ute Hamann (U)

Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Helen Hanson (H)

SouthWest Thames Centre for Genomics, St George's University Hospital's NHS Foundation Trust, London, UK.

Maartje J Hooning (MJ)

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

Reiner Hoppe (R)

Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
University of Tübingen, Tübingen, Germany.

Louise Izatt (L)

Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.
ORCID: 0000-0003-1258-4843

Anna Jakubowska (A)

Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland.
ORCID: 0000-0002-5650-0501

Paul A James (PA)

Parkville Familial Cancer Centre, The Royal Melbourne Hospital and Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
ORCID: 0000-0002-4361-4657

Vessela N Kristensen (VN)

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.

Fiona Lalloo (F)

Clinical Genetics Service, Manchester Centre for Genomic Medicine, Manchester University Hospitals Foundation Trust, Manchester, UK.

Geoffrey J Lindeman (GJ)

Parkville Familial Cancer Centre, The Royal Melbourne Hospital and Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Cancer Biology and Stem Cells Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
Department of Medical Oncology, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia.
ORCID: 0000-0001-9386-2416

Arto Mannermaa (A)

Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.
Biobank of Eastern Finland, Kuopio University Hospital, Kuopio, Finland.

Sara Margolin (S)

Department of Oncology, Stockholm South General Hospital (Södersjukhuset), Stockholm, Sweden.
Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden.

Susan L Neuhausen (SL)

Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
ORCID: 0000-0001-5053-0390

William G Newman (WG)

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
ORCID: 0000-0002-6382-4678

Paolo Peterlongo (P)

Genome Diagnostics Program, IFOM ETS - The AIRC Institute of Molecular Oncology, Milan, Italy.
ORCID: 0000-0001-6951-6855

Kelly-Anne Phillips (KA)

Department of Medical Oncology, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, Victoria, Australia.
Department of Medicine, St Vincent's Hospital, The University of Melbourne, Fitzroy, Victoria, Australia.
Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.

Miquel Angel Pujana (MA)

Translational Research Laboratory, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.

Johanna Rantala (J)

Clinical Genetics, Karolinska Institutet, Stockholm, Sweden.

Karina Rønlund (K)

Department of Clinical Genetics, University Hospital of Southern Denmark, Vejle Hospital, Vejle, Denmark.

Emmanouil Saloustros (E)

Department of Oncology, University Hospital of Larissa, Larissa, Greece.
ORCID: 0000-0002-0485-0120

Rita K Schmutzler (RK)

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

Andreas Schneeweiss (A)

National Center for Tumor Diseases, University Hospital and German Cancer Research Center, Heidelberg, Germany.
Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, University of Heidelberg, Heidelberg, Germany.

Christian F Singer (CF)

Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.

Maija Suvanto (M)

Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
ORCID: 0000-0001-9271-7778

Yen Yen Tan (YY)

Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
ORCID: 0000-0003-1063-5352

Manuel R Teixeira (MR)

Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.
School of Medicine and Biomedical Sciences (ICBAS), University of Porto, Porto, Portugal.
ORCID: 0000-0002-4896-5982

Mads Thomassen (M)

Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark.

Marc Tischkowitz (M)

Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.

Vishakha Tripathi (V)

Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Barbara Wappenschmidt (B)

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

Emily Zhao (E)

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

Douglas F Easton (DF)

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
ORCID: 0000-0003-2444-3247

Antonis C Antoniou (AC)

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

Georgia Chenevix-Trench (G)

Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

Paul D P Pharoah (PDP)

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
ORCID: 0000-0001-8494-732X

Marjanka K Schmidt (MK)

Division of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, the Netherlands.
Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
ORCID: 0000-0002-2228-429X

Carl Blomqvist (C)

Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.

Heli Nevanlinna (H)

Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
ORCID: 0000-0002-0916-2976

Classifications MeSH