Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.


Journal

Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831

Informations de publication

Date de publication:
02 2020
Historique:
received: 13 06 2019
accepted: 27 08 2019
pubmed: 10 9 2019
medline: 12 1 2021
entrez: 10 9 2019
Statut: ppublish

Résumé

Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by pathogenic variants of the NF1 gene. A markedly increased risk of breast cancer is associated with NF1. We have determined the breast cancer survival and risk of contralateral breast cancer in NF1. We included 142 women with NF1 and breast cancer from five cohorts in Europe and 335 women without NF1 screened for other familial breast cancers. Risk of contralateral breast cancer and death were assessed by Kaplan-Meier analysis with delayed entry. One hundred forty-two women with NF1 were diagnosed for breast cancer at a median age of 46.9 years (range 27.0-84.3 years) and then followed up for 1235 person-years (mean = 8.70 years). Twelve women had contralateral breast cancer with a rate of 10.5 per 1000 years. Cumulative risk for contralateral breast cancer was 26.5% in 20 years. Five and 10-year all-cause survival was 64.9% (95% confidence interval [CI] = 54.8-76.8) and 49.8% (95%CI = 39.3-63.0). Breast cancer-specific 10-year survival was 64.2% (95% CI = 53.5-77.0%) compared with 91.2% (95% CI = 87.3-95.2%) in the non-NF1 age-matched population at increased risk of breast cancer. Women with NF1 have a substantial contralateral breast cancer incidence and poor survival. Early start of breast cancer screening may be a way to improve the survival.

Identifiants

pubmed: 31495828
doi: 10.1038/s41436-019-0651-6
pii: S1098-3600(21)01290-9
pmc: PMC7000349
doi:

Substances chimiques

NF1 protein, human 0
Neurofibromin 1 0

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Pagination

398-406

Subventions

Organisme : Department of Health
ID : IS-BRC-1215-20007
Pays : United Kingdom
Organisme : Suomen Kulttuurirahasto
ID : -
Pays : International

Commentaires et corrections

Type : ErratumIn

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Auteurs

D Gareth R Evans (DGR)

The Christie NHS Foundation Trust, Manchester, UK.
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation 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.
Genesis Breast Cancer Prevention Centre and Nightingale Breast Screening Centre, University Hospital of South Manchester, Manchester Academic Health Science Centre, Manchester, UK.

Roope A Kallionpää (RA)

Institute of Biomedicine, University of Turku, Turku, Finland.

Maurizio Clementi (M)

Clinical Genetics Unit, Deparment of Women's and Children's Health, University of Padova, Padova, Italy.

Eva Trevisson (E)

Clinical Genetics Unit, Deparment of Women's and Children's Health, University of Padova, Padova, Italy.

Victor-Felix Mautner (VF)

Phacomatoses Department, Department of Neurology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.

Sacha J Howell (SJ)

The Christie NHS Foundation Trust, Manchester, UK.
Genesis Breast Cancer Prevention Centre and Nightingale Breast Screening Centre, University Hospital of South Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Division of Cancer Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

Lauren Lewis (L)

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

Ouidad Zehou (O)

Referral Centre for Neurofibromatoses Dermatology, Hôpital Henri Mondor, APHP, UPEC, Créteil, France.

Sirkku Peltonen (S)

Department of Dermatology, University of Turku and Turku University Hospital, Turku, Finland.

Antonella Brunello (A)

Medical Oncology 1 Unit, Department of Oncology, Istituto Oncologico Veneto IOV - IRCCS, Padova, Italy.

Elaine F Harkness (EF)

Genesis Breast Cancer Prevention Centre and Nightingale Breast Screening Centre, University Hospital of South Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Division of Informatics, Imaging and Data Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Pierre Wolkenstein (P)

Referral Centre for Neurofibromatoses Dermatology, Hôpital Henri Mondor, APHP, UPEC, Créteil, France.

Juha Peltonen (J)

Institute of Biomedicine, University of Turku, Turku, Finland. juhpel@utu.fi.

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