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