Myriad myRisk Tyrer-Cuzick Elevated Result - Case Study 8 - MyriadMyRisk

Patient Clinical Profile

  • Patient Age: 35
  • Gender: Female
  • Personal Clinical History: Unaffected
  • Visit type: Annual well woman exam


Myriad myRisk® Panel Test Result:

Negative
Tyrer-Cuzick Remaining Lifetime Risk Estimate: 24.3%
Tyrer-Cuzick 5-Year Risk Estimate: .6%

Women who are unaffected with cancer but have a significant family history of breast cancer are often referred for hereditary cancer testing with a multi-gene panel. Despite being at high familial risk for the development of breast cancer, fewer than 10% of these patients carry a clinically actionable mutation. A negative genetic test result can often leave providers uncertain about how to manage their patient’s future cancer risk. Although these women have tested negative for a deleterious mutation, they are not at general population risk because of their concerning family history of cancer.

Breast cancer risk models, like Tyrer-Cuzick, can be used to further stratify a woman’s breast cancer risk when they are negative for a clinically actionable mutation. The National Comprehensive Cancer Network (NCCN) and the American Cancer Society (ACS) recommend adding annual screening breast MRI to yearly mammography for women found to have a greater than 20% lifetime risk of breast cancer using a risk model largely dependent on family history.1,2

Patient’s Family History

Relative Cancer Age of Dx
Mother Breast 52
Maternal Aunt Breast 45

After reviewing this patient’s cancer family history, her provider suspected that hereditary cancer could be the cause of her family’s history of breast cancer. During her visit, the provider also collects this patient’s clinical information including: height, weight, age of menarche, age of first live birth, menopausal status, hormone replacement therapy usage and breast biopsy history.

Breast Cancer Risk Model (Tyrer-Cuzick) Information

Ancestry Height Weight Age of Menarche Menopausal Status Age at Time of First Child’s Birth Hormone Replacement Therapy Usage Breast Biopsy History Female Relatives
White/Non-Hispanic 5’4″ 115 lbs 13 Pre-Menopausal 24 Never N/A Daughters: 0, Sisters: 2, Maternal Aunts: 2, Paternal Aunts: 1

Why this matters:

  • This patient tested negative for any clinically actionable gene mutations
  • This patient should be managed at a familial/moderate risk, not at general population risk
  • This patient’s Tyrer-Cuzick Remaining Lifetime Risk Estimate reported on her myRisk Test Result was found to be >20%.
  • This patient meets criteria under NCCN guidelines for yearly breast MRI in addition to yearly mammography beginning ten years before the earliest diagnosis of breast cancer in her family (i.e., ten years before the maternal aunt’s age of diagnosis at 45), which is now for this patient (age 35).

20% or Greater Lifetime Risk of Breast Cancer Risk Management Table

PROCEDURE AGE TO BEGIN FREQUENCY (Unless otherwise indicated by findings) RELATED TO
Breast awareness – Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self examination (BSE) may facilitate breast awareness.** Individualized N/A Tyrer-Cuzick (>20% lifetime risk)
Clinical encounter, including clinical breast exam, ongoing risk assessment and risk reduction counseling*,** At age identified as being at increased risk Every 6 to 12 months Tyrer-Cuzick (>20% lifetime risk)
Mammography, with consideration of tomosynthesis*,** 10 years younger than the earliest diagnosis in the family, but not younger than 30 Annually Tyrer-Cuzick (>20% lifetime risk)
Breast MRI with contrast*,** 10 years younger than the earliest diagnosis in the family, but not younger than 25 Annually Tyrer-Cuzick (>20% lifetime risk)
Consider additional risk-reduction strategies.*,** Individualized N/A Tyrer-Cuzick (>20% lifetime risk)

* Mavaddat N, et al. Prediction of breast cancer risk based on profiling with common genetic variants. J Natl Cancer Inst. 2015 April 2. [Epub ahead of print] PMID:25855707.
** 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.

Bottom Line

Despite this patient’s Negative myRisk Genetic Test Result, she is still at increased risk for breast cancer because of her family history; therefore, she needs to be managed differently than a woman at general population risk with no family history. Based on her >20% Tyrer-Cuzick Risk Estimate, NCCN guidelines recommend that she begin annual mammograms and MRI now at age 35 (in this case, 5 years earlier than the general population). The Myriad myRisk® Hereditary Cancer panel combines genetic test results with an analysis of personal clinical risk factors and cancer family history to provide a more precise, personalized, and comprehensive assessment of a woman’s future risk of breast cancer.

Learn More About The Addition of Tyrer-Cuzick to Myriad myRisk Testing


References

 

  1. Rosenthal, E. et al. Outcomes of Clinical Testing for 76,000 Patients Utilizing a Panel of 25 Genes Associated with Increased Risk for Breast, Ovarian, Colorectal, Endometrial, Gastric Pancreatic, Melanoma and Prostate Cancers. Abstract #1515 presented at ASCO June 1, 2015.
  2. Bevers, T et al. NCCN Clinical Practice Guidelines in Oncology: Breast Cancer Screening and Diagnosis. V 1.2016. July 27. Available at http://www.nccn.org.
  3. Saslow, D, Boetes C, Burke W, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 2007;57:75-89. Available at http://www.ncbi.nlm.hih.gov/ pubmed/17392385.

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