Pathogenic genetic mutations common in early stage breast cancer

  • Petridis C & al.
  • Breast Cancer Res
  • 6 May 2019

  • curated by Deepa Koli
  • Univadis Clinical Summaries
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Takeaway

  • Patients with ductal carcinoma in situ (DCIS) showed significant association with pathogenic variants in BRCA2, CHEK2, PALB2, BRCA1, and TP53.

Why this matters

  • Study shows women aged

Study design

  • Genetic testing was performed in 655 patients aged ≤50 years with DCIS with no invasive disease and 1611 healthy individuals.
  • Funding: King’s Health Partner’s Research and Development Challenge Fund.

Key results

  • Significant association was observed between DCIS and
    • BRCA2 (OR, 27.96; P=2×10−10); 22 pathogenic variants;
    • CHEK2 (OR, 8.04; P=9.0 × 10−6); 16 pathogenic variants,
    • PALB2 (OR 14.88; P=.003); 6 variants,
    • BRCA 1 (P=.007),
    • TP53 (P=.02).
  • Age
  • Frequency of pathogenic variants in ER-positive patients was 9% and 29% in those aged
  • In ER-negative patients, the frequency was 9% and 8% for patients aged

Limitations

  • Case-control study.
  • Short-term data.