Dr. Julia Blanter, MD MS Icahn School of Medicine at Mount Sinai First author of the study

Oncotype DX Breast Cancer Assay: BRCA Mutations and Association with Discordance in a Large Oncotype Database

MedicalResearch.com Interview with:

Dr. Julia Blanter, MD MS Icahn School of Medicine at Mount Sinai First author of the study

Dr. Blanter

Dr. Julia Blanter, MD MS
Icahn School of Medicine at Mount Sinai
First author of the study

MedicalResearch.com: What is the background for this study?

Response: The Oncotype DX Breast Cancer Assay was developed to genetically profile patients with early stage, hormone positive breast cancer and predict their 10-year risk of distant recurrence. A high-risk recurrence score is associated with a benefit from adjuvant chemotherapy whereas a low risk recurrence score is associated with little to no benefit.

BRCA mutated tumors have been associated with higher risk recurrence scores as compared to BRCA negative breast cancer patients. However, there have been minimal studies relating discordance to BRCA mutations. Discordance refers to a poorly differentiated or high-grade tumor with a low risk recurrence score. Prior studies demonstrated 7-19% discordance, or difference between recurrence score and tumor grade in breast cancer patients regardless of BRCA mutation status.

It has been concluded that patients who exhibit discordance may benefit from additional therapy in conjunction with endocrine therapy.

MedicalResearch.com: What are the main findings?

Response: We developed a large Oncotype database of 723 patients treated at Mount Sinai Hospital from 2006-2018 to determine if BRCA status is associated with higher rates of discordance when compared to the mutation negative breast cancer population.

We found an association between higher recurrence score and BRCA positivity within our database.  We also found that the association between discordance and breast cancer patients was similar between BRCA mutated and non-mutated patients. 

MedicalResearch.com: What should readers take away from your report?

Response: Given our findings, we were able to conclude that discordance, tumor grade and tumor size should be considered in treatment plans of breast cancer patients regardless of BRCA mutation status.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: Both BRCA mutated and non-mutated patients exhibit some discordance. These patients may benefit from receiving chemotherapy even with a low risk Recurrence Score. Future studies may involve looking at BRCA mutated patients with and without chemotherapy to assess rates of recurrence. Many studies have looked at decreasing risk for BRCA mutated patients with adjuvant chemotherapy following surgical treatment. Therefore, a future research project may involve looking at BRCA mutated patients with bilateral salpingo-oophorectomy and/or bilateral mastectomy and how that affects this risk.

MedicalResearch.com: Is there anything else you would like to add?

Response: We hope to continue using our database to look for further associations that may guide treatment.  Within our database, we have look at many different factors some of which include: mutation status, demographics, cholesterol levels, BMI, recurrence rates.

Subjects have given their written informed consent and the study protocol was approved by the institute’s committee on human research.

Disclosure Statement

Amy Tiersten, final author of the study has had the following financial relationships in consulting: AstraZeneca, F. Hoffman-La Roche Ltd. Novartis.

Industry-Sponsored Lectures: MSSM faculty occasionally give lectures at events sponsored by industry, but only if the events are free of any marketing purpose.

Amy Tiersten has served on the following Scientific Advisory Boards: Eisai Inc., Immunomedics, Novartis


BRCA mutations and association with discordance in a large oncotype database

Julia Blanter, Brittney Zimmerman, Serena Tharakan, Krystal Cascetta, Meng Ru and Amy Tiersten. Icahn School of Medicine at Mount Sinai, New York, NY



Last Modified: [last-modified] 

The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.


Last Updated on December 15, 2019 by Marie Benz MD FAAD