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

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    Authors
    Evans, D Gareth R
    Kallionpaa, RA
    Clementi, M
    Trevisson, E
    Mautner, VF
    Howell, Sacha J
    Lewis, L
    Zehou, O
    Peltonen, S
    Brunello, A
    Harkness, EF
    Wolkenstein, P
    Peltonen, J
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    Affiliation
    The Christie NHS Foundation Trust, Manchester, UKManchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    Issue Date
    2019
    
    Metadata
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    Abstract
    PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
    Citation
    Evans DGR, Kallionpaa RA, Clementi M, Trevisson E, Mautner VF, Howell SJ, et al. Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study. Genet Med. 2019 Sep 9.
    Journal
    Genetics in Medicine
    URI
    http://hdl.handle.net/10541/622178
    DOI
    10.1038/s41436-019-0651-6
    PubMed ID
    31495828
    Additional Links
    https://dx.doi.org/10.1038/s41436-019-0651-6
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1038/s41436-019-0651-6
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