Authors: Yonaton Zarbiv, Yael Berner Wygoda, Albert Grinshpun, Tamar Hamburger, Tamar Sella, Shani Breuer, Ofra Maimon, Yakir Rottenberg, Tamar Peretz & Luna Kadouri
Abstract
Introduction
The 21-gene recurrence score assay Oncotype DX© (ODX) has clear prognostic and predictive value regarding adjuvant chemotherapy. However, recent studies have shown the clinical distinctiveness of both BRCA1/2–driven early breast cancer (EBC) and invasive lobular (ILC) breast cancers. We evaluated the association between BRCA1/2-driven EBC/ILC and Oncotype DX failure despite a recurrence score ≤ 20.
Methods
Here, we describe a small cohort of 16 patients from our center who, despite a low recurrence score (RS) ≤ 20, suffered from early disease recurrence. Clinical parameters of our cohort of patients were compared to a cohort from the general population of Clalit Health Service (CHS).
Results
Median age at diagnosis in our cohort was significantly younger. BRCA mutational status was available in 14 patients in our cohort. A high percentage of these patients had BRCA1/2 mutations (35.7%), either germline (in 3) or somatic (in 2). Half of our cohort was diagnosed with lobular carcinoma (ILC) relative to 10–15% in the general population of BC (p = 0.02). The median time to recurrence was 44 months.
Conclusion
BRCA1/2 mutation and ILC are highly represented in this cohort. Although our cohort is small, these data may suggest that a RS ≤ 20 in these subgroups may not reflect a low risk of recurrence.
Key Summary Points |
Genomic testing is standard to determine benefit of adjuvant chemotherapy in early breast cancer (EBC). |
The accuracy of these tests in non-invasive ductal carcinoma (IDC) histologies has been questioned. |
The effect of BRCA on these genomic tests is also unknown. |
Here, we describe a small cohort of low recurrence score (RS) patients with early recurrence. |
Despite the small cohort, a significant number of lobular carcinoma and mBRCA patients suffered recurrence. |