DURING WORKUP,

TEST EVERY PATIENT WITH RECURRENT BC OR mBC FOR gBRCA MUTATIONS

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Biomarker testing can help you identify potential treatment
options for your patients

At workup for recurrent BC or mBC, NCCN Guidelines for Breast Cancer recommend1:

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1

Biopsy of at least first recurrence of disease
(consider re-biopsy if progression)

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2

Evaluation of ER/PR and HER2 status

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3

Comprehensive germline and somatic profiling to identify candidates
for additional targeted therapies

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All patients with recurrent BC or mBC

Test for gBRCA mutations with germline sequencing

HR+/HER2- disease

Test for PIK3CA activating mutation with PCR or molecular panel testing

TNBC

Test for PD-L1 expression with IHC using 22C3 antibody

BRCA testing is available for 2 different types of mutations

Germline BRCA testing: inherited mutations in the DNA2-4 *

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  • Blood, saliva, or cheek swab sample can detect germline mutations carried in all cells of the body
  • Genetic laboratory usually provides results within 2-3 weeks

Somatic BRCA testing: acquired mutations in the tumor2,5,6

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  • Tumor biopsy or ctDNA assay can detect both somatic and germline mutations; subsequent blood test is needed to identify mutation type
  • Full testing process may take several weeks

Insurance coverage

gBRCA testing may be covered by insurance if patients have been diagnosed with BC. But each situation is unique.7 Because coverage varies, check with patients' insurance plan before scheduling testing. If coverage is an issue, low-cost testing may be available.8

BC=breast cancer; BRCA=breast cancer susceptibility gene; ctDNA=circulating tumor DNA; ER=estrogen receptor; gBRCA=germline breast cancer susceptibility gene; HER2-=human epidermal growth factor receptor 2 negative; HR+=hormone receptor-positive; IHC=immunohistochemistry; mBC=metastatic breast cancer; NCCN=National Comprehensive Cancer Network; PCR=polymerase chain reaction; PD-L1=programmed cell death ligand 1; PIK3CA=phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; PR=progesterone receptor; TNBC=triple-negative breast cancer.

References: 1. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Breast Cancer. V.4.2022. June 21, 2022. © National Comprehensive Cancer Network, Inc. 2022. All rights reserved. Accessed June 29, 2022. 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. Lynch JA, Venne V, Berse B. Genetic tests to identify risk for breast cancer. Semin Oncol Nurs. 2015;31(2):100-107. 3. Cook-Deegan R, Niehaus A. After Myriad: genetic testing in the wake of recent Supreme Court decisions about gene patents. Curr Genet Med Rep. 2014;2:223-241. 4. Myriad. BRACAnalysis: hereditary cancer testing for hereditary breast and ovarian cancer. Myriad website. https://myriadgenetics.eu/all-products/bracanalysis/. Accessed March 9, 2022. 5. Vergote I, Banerjee S, Gerdes A-M, et al. Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients. Eur J Cancer. 2016;69:127-134. 6. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. V.2.2022. March 9, 2022. © National Comprehensive Cancer Network, Inc. 2022. All rights reserved. Accessed March 10, 2022. 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. 7. Centers for Disease Control. Genetic counseling for hereditary breast and ovarian cancer. https://www.cdc.gov/genomics/disease/breast_ovarian_cancer/counseling.htm. Accessed April 15, 2022. 8. Facing Our Risk of Cancer Empowered (FORCE). Support: insurance & paying for care: genetic services. https://www.facingourrisk.org/support/insurance-paying-for-care/genetic-services/overview. Accessed March 9, 2022.