BRCA Mutation Association with Recurrence Score and Discordance in a Large Oncotype Database
Julia Blanter1, Brittney Zimmerman2, Serena Tharakan3
1Internal Medicine Department, Icahn School of Medicine at Mount Sinai, New York, New York, USA, jblanter@gmail.com.
Oncology
|January 22, 2020
Summary
BRCA mutations in breast cancer do not affect Oncotype DX Recurrence Score (RS) discordance with tumor grade. However, BRCA-positive tumors show a higher RS than BRCA-negative tumors.
Area of Science:
- Oncology
- Genetics
- Breast Cancer Research
Background:
- The Oncotype DX Breast Cancer Assay predicts recurrence risk and chemotherapy benefit using a 21-gene assay.
- Discordance between Recurrence Score (RS) and tumor grade (TG) occurs in 7-19% of breast cancer patients.
- BRCA-mutated tumors (BRCA+) are associated with higher RS compared to BRCA-negative tumors (BRCA-).
Discussion:
- This study investigated the association between BRCA mutation status and discordance in early-stage, hormone-positive breast cancer patients.
- Discordance was defined as a one- or two-step difference between RS and TG.
- BRCA mutation status included deleterious mutations, unknown types, and variants of undetermined significance (VUS).
Key Insights:
- BRCA-positive tumors did not show a different rate of discordance compared to BRCA-negative tumors.
- Patients with deleterious BRCA mutations had a median RS of 23.5, significantly higher than the median RS of 16 in BRCA-negative patients (p < 0.01).
- One- and two-step discordance rates were 46% and 8% for BRCA-mutated patients versus 53% and 11% for BRCA-negative patients, respectively.
Outlook:
- Further research may explore the clinical implications of higher RS in BRCA-mutated breast cancer.
- Understanding the interplay between genetic mutations and genomic assays is crucial for personalized breast cancer treatment.
- This study highlights the importance of considering tumor genetics alongside standard prognostic markers.
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