Prevalence of germline TP53 mutations in HER2+ breast cancer patients

Michelle G. Rath, Serena Masciari, Rebecca Gelman, Alexander Miron, Penelope Miron, Kathleen Foley, Andrea L. Richardson, Ian E. Krop, Sigitas J. Verselis, Deborah A. Dillon, Judy E. Garber

Research output: Contribution to journalArticlepeer-review


Breast cancer is the most frequent tumor in Li-Fraumeni syndrome (LFS), a rare inherited cancer syndrome associated with germline mutations in the TP53 gene. Recent data show that breast cancer in germline TP53 mutation carriers is commonly HER2+ (63-83 %). We assessed the prevalence of germline TP53 mutations in a cohort of women with HER2+ breast cancer diagnosed age ≤50 years. We identified blood specimens from 213 women with primary invasive HER2+ breast cancer age ≤50 years from a single center. Exon grouping analysis sequencing and multiplex ligation-dependent probe amplification techniques were used to screen for germline TP53 mutations. Among 213 women with HER2+ breast cancer age ≤50 years, 3 (ages at diagnosis 23, 32, 44 years) were found to carry a TP53 mutation (1.4 %, 95 % CI 0.3-4.1 %). ER/PR status was not uniform. Two TP53 carriers met Chompret criteria for LFS; none met classic LFS criteria. Although two-thirds of breast cancers in women with TP53 mutations are HER2+, we observed a low prevalence of germline TP53 mutations among unselected young women with HER2+ breast cancer. Given the potential clinical impact, consideration of germline TP53 testing should be given to young women with HER2+ breast cancer, especially if family cancer history is notable.

Original languageEnglish (US)
Pages (from-to)193-198
Number of pages6
JournalBreast Cancer Research and Treatment
Issue number1
StatePublished - May 2013
Externally publishedYes


  • Breast cancer
  • Li-Fraumeni syndrome
  • TP53

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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