Patient Clinical Profile

  • Patient Age: 43
  • Gender: Female
  • Visit Type: Contraception Consult
  • Visit notes: Childbearing is complete. Patient is requesting permanent sterilization

Myriad myRisk® Panel Test Result:

MLH1 (Lynch)

Recognizing that 24% of ovarian cancer is due to a hereditary cause 8,9, and that ovarian cancer can be associated with MANY genes across multiple hereditary syndromes…

What if this patient’s provider had ordered the myRisk panel test instead of single syndrome testing?

Assessment that is too narrow can lead to a false sense of security and patient mismanagement

MLH1 Cancer Risk Management Table

  • Colonoscopy every 1 to 2 years beginning at age 20 to 25 years, or 2 to 5 years younger than the earliest diagnosis in family if it is under age 251,2
  • Consider the use of aspirin as a risk reduction agent1,2
  • Colorectal surgical evaluation may be appropriate for some patients2
  • Consider annual pelvic examination, endometrial sampling and transvaginal ultrasound beginning at age 30 to 35 years1,2
  • Consider hysterectomy after completion of childbearing1,2
  • Consider bilateral salpingo-oophorectomy at age 40 or after completion of childbearing1,2
  • Consider transvaginal ultrasound and CA-125 measurement beginning at age 30-35 years1,2
  • Treat for Helicobacter pylori infection if present1,2
  • Consider upper endoscopy every 2 to 5 years, beginning at ages 30 to 35 years, particularly for patients with additional risk factors for gastric cancer, such as family history or Asian ancestry. Consider biopsy of the antrum1,2,3
Small Bowel
  • Consider upper endoscopy every 3 to 5 years, beginning at age 30 to 35 years, particularly for patients with additional risk factor for small bowel cancer, such as family history1,2
Ureter/Renal Pelvis
  • Consider urinalysis annually beginning at age 25-35 years1,2

In this particular case…

without having the more comprehensive test result from myRisk showing that she has Lynch syndrome (with an MLH1 mutation), she may have undergone tubal ligation, tubal occlusion or another sub-optimal method for permanent sterilization. Knowing her desire for permanent sterilization AND that she has an MLH1 mutation, she is an ideal candidate for a total hysterectomy with bilateral salpingo-oophorectomy, for the added cancer risk-reducing benefits. Further, without this more comprehensive approach, it would not have been apparent from her family history that she should already be getting regular colonoscopies immediately rather than waiting until age 50 recommended for the general population without any family history of colorectal cancer.

Myriad myRisk Hereditary Cancer test increases mutation detection by 40-50% in patients appropriate for HBOC or Lynch testing.4,5,6

Relying on single syndrome testing would not only have increased the costs and time taken for multiple tests, but may also have reduced the possibility of identifying this patient’s mutation and optimal management.

Myriad myRisk is revolutionizing hereditary cancer


  1. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal. V 2.2015. Oct 7. Available at
  2. Giardiello FM, et al. Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol. 2014 109:1159-79. PMID: 25070057.
  3. Ajani JA, et al. NCCN Clinical Practice Guidelines in Oncology®: Gastric Cancer. V 3.2015. March 23. Available at
  4. Sharma, L., et al. (2014, December) Spectrum of Mutations Identified in a 25-gene Hereditary Cancer Panel for Patients with Breast Cancer. Presented at SABCS, San Antonio, TX.
  5. Yurgelun, MB., et al., Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients with Suspected Lynch Syndrome, Gastroenterology, (2015, May).
  6. Tung, et al. (2014, March) Prevalence of gene mutations among hereditary breast and ovarian cancer patients using a 25 gene panel. Presented at the ACMG, Nashville, TN.
  7. Saam, et al. (2014, March) Evaluating the personal and family history overlap between hereditary cancer syndromes. Presented at the NCCN Annual Conference, Hollywood, FL.
  8. Lancaster, J et al. Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecologic Oncology 136 (2015) 3–7
  9. Walsh, T et al. Proceedings of the National Academy of Sciences of the United States of America. 18032-18037, November 1, 2011. Vol 108, no 44

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