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Somatic and Germline Testing

Expanded patient access is here

We’re evolving our germline testing services to better support how you and your practice care for patients. Contact a Myriad account executive to find out what’s new.

Expanded patient access is here

We’re evolving our germline testing services to better support how you and your practice care for patients. Contact a Myriad account executive to find out what’s new.

Why should I do somatic AND germline testing?

Treating pancreatic, prostate, ovarian, and breast cancer can be complex. Without all of the answers it can feel like you are operating in the dark. Somatic testing identifies most patients with actionable mutations, but it doesn’t identify all of them. Without germline testing, you’re not getting the full story.

1 in 10 pancreatic1

1 in 8 breast2

1 in 6 prostate3

1 in 4 ovarian4

Cancer patients have a GERMLINE mutation which may benefit from a targeted therapy.

Even if your patient is negative for a BRCA1/2 mutation that is found in their tumor, it is still possible that they have an inherited germline BRCA1/2 mutation. Somatic testing alone can have some limitations including unknown variants, limited tumor tissue, and missed large rearrangements.

You need the answers from germline testing to determine treatment options such as:

Oncology Treatment Options Germline

Knowing which patients to test is simpler than ever.

Myriad Genetics with BRACAnalysis CDx® will process ALL tests for patients with a personal diagnosis of

  • Breast cancer5
  • Ovarian cancer6
  • Pancreatic cancer7
  • Prostate cancer8

Germline testing with Myriad Genetics helps you get the full story.

  • Industry leading variant classification program
  • Uses blood or buccal samples to generate a 99% accuracy assay
  • Germline testing can establish future risk
  • 10% of all BRCA mutations are large rearrangements

We understand that you need your patients’ germline BRCA1/2 status quickly to minimize your patients’ anxiety while they wait for a result and to get them on treatment. BRACAnalysis CDx can report your patients’ germline BRCA1/2 status in less than two weeks after we receive the sample.

Some exceptions apply (e.g. government payers). For patients with Medicare who are currently or may become eligible for treatment with a PARP inhibitor, BRACAnalysis CDx with MyRisk is available

How to order

To request reflex testing for patients who test negative for BRCA1/2 mutations, simply check the box for Myriad Genetics MyRisk® Hereditary Cancer Test on the test request form. This will provide an analysis of additional germline cancer genes for patients who have been testing with BRACAnalysis CDx.

References:

  1. Tersmette AC, et al. Increased risk of incident pancreatic cancer among first-degree relatives of patients with familial pancreatic cancer. Clin Cancer Res. 2001 Mar;7(3):738-744.
  2. TFoulkes, WD et al. N Engl J Med. 2008; 359:2143-2153.
  3. Nicolosi P, et al. Prevalence of germline variants in prostate cancer and implications for current genetic testing guidelines. JAMA Oncol. 2019 Apr 1;5(4):523-528.
  4. Walsh T, et al. Proc Natl Acad Sci USA. 2011; 108(44): 18032-18037.
  5. Robson M, et al. N Engl J Med. 2018; 377:523-533.
  6. Golan T, et al. N Engl J Med. 2019; 381(4):317-327.
  7. Moore KN, et al. N Engl J Med. 2018; 379(26):2495-2505.
  8. Bono et al. Olaparib for Metastatic Castration-Resistant Prostate Cancer N Engl J Med. ePub April 28, 2020.

BRACAnalysisCDx Logo

Intended use – PMA intended use statement for BRACAnalysis CDx

BRACAnalysis CDx® is an in vitro diagnostic device intended for the qualitative detection and classification of variants in the protein-coding regions and intron/exon boundaries of the BRCA1 and BRCA2 genes using genomic DNA obtained from whole blood specimens collected in EDTA. Single nucleotide variants and small insertions and deletions (indels) are identified by polymerase chain reaction (PCR) and Sanger sequencing. Large deletions and duplications in BRCA1 and BRCA2 are detected using multiplex PCR.

Results of the test are used as an aid in identifying patients who are or may become eligible for treatment with the targeted therapies listed in Table 1 in accordance with the most recently approved therapeutic product labeling.

Table 1: companion diagnostic indications

Tumor type Biomarker Therapy
Breast cancer Deleterious or suspected deleterious mutations in BRCA1 and BRCA2 genes
  • LYNPARZA® (olaparib)
  • Talzenna® (talazoparib)
Ovarian cancer Deleterious or suspected deleterious mutations in BRCA1 and BRCA2 genes
  • LYNPARZA® (olaparib)
Pancreatic cancer Deleterious or suspected deleterious mutations in BRCA1 and BRCA2 genes
  • LYNPARZA® (olaparib)
  • Talzenna® (talazoparib)
Prostate cancer Deleterious or suspected deleterious mutations in BRCA1 and BRCA2 genes
  • LYNPARZA® (olaparib)
  • Talzenna® (talazoparib)

Detection of deleterious or suspected deleterious germline BRCA1 and BRCA2 mutations by BRACAnalysis CDx test in ovarian cancer patients is also associated with enhanced progression-free survival (PFS) from Zejula® (niraparib) or Rubraca® (rucaparib) maintenance therapy in accordance with the most recently approved therapeutic product labeling.

This assay is for professional use only and is to be performed only at Myriad Genetic Laboratories, a single laboratory site located at 322 North 2200 West, Salt Lake City, Utah 84116.

LYNPARZA is a registered trademark of the AstraZeneca group of companies.