Patient Clinical Profile
Myriad myRisk® Panel Test Result:
VUS in both ATM and CHEK2
Variation in the human genome is normal, with new genetic changes discovered every day. That’s why variants of uncertain significance (VUS) are expected in genetic testing. A VUS is a change in the genetic sequence for which association with disease risk is unclear. An uncertain genetic test result can be confusing to patients and make it challenging for health care providers to counsel patients on the appropriate course of management.
With over 20 years of experience, Myriad’s Variant Classification Program called myVision®, is committed to providing the most accurate test results to patients and their families. Learn the benefits of myVision through a Myriad myRisk® case study highlighted below.
Patient’s Family History
|Relative||Cancer||Age of Dx|
Why this matters:
- We now know this patient has up to a 48% lifetime risk of developing breast cancer compared to 10.2% risk for general population2-5
- Up to a 29% risk of developing a second primary within 10 years of the first breast cancer diagnosis6
- Possibly elevated risk for colorectal cancer7
NCCN CHEK2 Cancer Risk Management Recommendations
This case demonstrates the importance of a diagnostic test to stratify a patient’s risk to develop cancer. Without the reclassified test result, this patient would not have known that she is at risk for cancers other than those seen in her family history. She can now avoid a cancer diagnosis through earlier and more frequent surveillance, chemoprevention, and preventive surgery.
- Daly M et al. NCCN Clinical Practice Guidelines in Oncology®: Genetic/Familial High-Risk Assessment: Breast and Ovarian. V 2.2017. December 07. Available at http://www.nccn.org
- Weischer et al. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol. 2008 26: 542-8.
- CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet. 2004 74:1175-82.
- Weischer M, et al. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. J Clin Oncol. 2012 30:4308-16.
- Meijers-Heijboer H, et al. CHEK2-Breast Cancer Consortium. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet. 2002 31:55-9.
- Kriege M, et al. Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy. Br J Cancer. 2014. 111:1004-13.
- Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal. V 2.2016. September 26. Available at http://www.nccn.org
- Bevers TB, et al. NCCN Clinical Practice Guidelines in Oncology®: Breast Cancer Screening and Diagnosis. V 1.2016. July 27. Available at http://www.nccn.org.