TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

J. J. Bakhuizen*, F. B. Hogervorst, M. E. Velthuizen, M. W. Ruijs, K. van Engelen, T. A. van Os, J. J. Gille, M. Collee, A. M. van den Ouweland, C. J. van Asperen, C. M. Kets, A. R. Mensenkamp, E. M. Leter, M. J. Blok, M. M. de Jong, M. G. Ausems

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    6 Citations (Scopus)

    Abstract

    Early-onset breast cancer may be due to Li-Fraumeni Syndrome (LFS). Current national and international guidelines recommend that TP53 genetic testing should be considered for women with breast cancer diagnosed before the age of 31years. However, large studies investigating TP53 mutation prevalence in this population are scarce. We collected nationwide laboratory records for all young breast cancer patients tested for TP53 mutations in the Netherlands. Between 2005 and 2016, 370 women diagnosed with breast cancer younger than 30years of age were tested for TP53 germline mutations, and eight (2.2%) were found to carry a (likely) pathogenic TP53 sequence variant. Among BRCA1/BRCA2 mutation negative women without a family history suggestive of LFS or a personal history of multiple LFS-related tumours, the TP53 mutation frequency was

    Original languageEnglish
    Pages (from-to)273-280
    Number of pages8
    JournalFamilial Cancer
    Volume18
    Issue number2
    DOIs
    Publication statusPublished - Apr-2019

    Keywords

    • Genetic testing
    • Li-Fraumeni syndrome
    • TP53
    • Breast cancer
    • Hereditary
    • LI-FRAUMENI SYNDROME
    • IMAGING SURVEILLANCE
    • CARRIERS
    • PREVALENCE
    • PHENOTYPE
    • GENOMICS
    • CRITERIA
    • RISKS
    • AGE

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