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

Bakhuizen, J. J., Hogervorst, F. B., Velthuizen, M. E., Ruijs, M. W., van Engelen, K., van Os, T. A., Gille, J. J., Collee, M., van den Ouweland, A. M., van Asperen, C. J., Kets, C. M., Mensenkamp, A. R., Leter, E. M., Blok, M. J., de Jong, M. M. & Ausems, M. G., Apr-2019, In : Familial Cancer. 18, 2, p. 273-280 8 p.

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  • TP53 germline mutation testing in early-onset breast cancer

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DOI

  • 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

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
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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