The Importance of Testing for BRCA Mutations in BC

Multiple guidelines recommend germline BRCA1/2 mutation testing in certain patients with BC, including:

 

  • NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®)1
  • ASCO Guidelines2
  • SGO Guidelines3
  • ASBS Guidelines4

BRCA mutation testing can provide important insights for you and your patients

Predispositional insights icon
Predispositional Insights

BRCA mutations are associated with a higher risk of developing certain cancers, including BC and OC.5,6

Cumulative risk of developing breast cancer in women with BRCA mutation
Cumulative risk of developing breast cancer in women with BRCA mutation

The role of BRCA mutations in cancer risk

BRCA proteins in healthy cell repair of DNA double-strand breaks
BRCA proteins in healthy cell repair of DNA double-strand breaks

In healthy cells, BRCA proteins play a critical role in the repair of DNA double-strand breaks.9

Mutated BRCA proteins
Mutated BRCA proteins

Mutations in BRCA may prevent the proper repair of DNA or cause it to be repaired via more error-prone mechanisms.9

DNA damage
DNA damage

This may cause DNA damage to accumulate and eventually lead to the development of cancer.10

If a BRCA mutation is detected in someone who does not have cancer, they have the opportunity to6:

test

  • Undergo more intensive screening for BRCA mutation–associated cancers
  • Take preventative measures, such as prophylactic surgery
Prognostic insights icon
Prognostic Insights

BRCA mutations may provide information about the course of your patient's disease.11,12

Predictive insights icon
Predictive Insights

Knowing your patient's BRCA mutation status may aid in the development of a comprehensive treatment plan.6,13-15

Role of PARP inhibition in certain cancers with BRCA mutations

PARP plays an integral role in repairing certain types of DNA damage, including single-strand DNA breaks
PARP plays an integral role in repairing certain types of DNA damage, including single-strand DNA breaks

PARP plays an integral role in repairing certain types of DNA damage, including single-strand DNA breaks.16

Inhibition of PARP can disrupt this DNA repair
Inhibition of PARP can disrupt this DNA repair

Inhibition of PARP can disrupt this DNA repair.16

Both BRCA and PARP are important for repairing DNA
Both BRCA and PARP are important for repairing DNA

Because both BRCA and PARP are important for repairing DNA, inhibiting PARP in a cell that already has a BRCA mutation can lead to cancer cell death.10

Eligibility insights icon
Eligibility Insights

In BC, germline BRCA mutations can determine eligibility for certain treatments.17

Testing can inform treatment decisions and, therefore, should take place as early as possible for appropriate patients.18

Testing can inform treatment decisions and, therefore, should take place as early as possible for appropriate patients.18


Watch to learn how BRCA mutations can drive the pathogenesis of BC.

Role of BRCA mutations in breast cancer video

 

Role of BRCA Mutations in Breast Cancer

 

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Learn more about pre-test patient evaluation, including whom to test and informed consent

ASBS, American Society of Breast Surgeons; ASCO, American Society of Clinical Oncology; BC, breast cancer; BRCA, breast cancer susceptibility gene; NCCN, National Comprehensive Cancer Network; OC, ovarian cancer; PARP, poly ADP-ribose polymerase; SGO, Society of Gynecologic Oncology.

References: 1. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Breast Cancer V3.2020. © National Comprehensive Cancer Network, Inc. 2020. All rights reserved. Accessed March 16, 2020. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way. 2. Lu KH et al. J Clin Oncol. 2014;32(8):833-840. 3. Lancaster JM et al; SGO Clinical Practice Committee. Gynecol Oncol. 2015;136(1):3-7. 4. The American Society of Breast Surgeons. https://www.breastsurgeons.org/docs/statements/Consensus-Guideline-on-Genetic-Testing-for-Hereditary-Breast-Cancer.pdf. Accessed May 28, 2019. 5. Miller-Samuel S et al. Semin Oncol. 2011;38(4):469-480. 6. Larsen MJ et al. Breast Cancer (Auckl). 2014;8:145-155. 7. National Cancer Institute. https://seer.cancer.gov/statfacts/html/breast.html. Accessed May 30, 2019. 8. Kuchenbaecker KB et al; BRCA1 and BRCA2 Cohort Consortium. JAMA. 2017;317(23):2402-2416. 9. Gudmundsdottir K et al. Oncogene. 2006;25(43):5864-5874. 10. McLornan DP et al. N Engl J Med. 2014;371(18):1725-1735. 11. van den Broek AJ et al. PLoS One. 2015;10(3):e0120189. 12. Goodwin PJ et al. J Clin Oncol. 2012;30(1):19-26. 13. Robson M et al. N Engl J Med. 2017;337(6):523-533. 14. Litton JK et al. N Engl J Med. 2018;379(8):753-763. 15. Fong PC et al. N Engl J Med. 2009;361(2):123-134. 16. O’Sullivan CC et al. Front Oncol. 2014;4:42. 17. FDA. https://www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/ucm301431.htm. Accessed September 5, 2018. 18. Smith KL et al. Cancer J. 2011;17(6):492-499.

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