Patient Clinical Profile

  • Patient Age: 26
  • Gender: Female
  • Visit Type: Contraception Consult
  • Visit notes: Patient has not had children, wishes to review birth control options

Myriad myRisk® Panel Test Result:

PMS2 (Lynch)

Patient’s Family History

Relative Cancer Age of Dx
Paternal Aunt #1 Breast 60
Paternal Aunt #2 Breast 60
Paternal Cousin Breast 40
Maternal Grandfather Colorectal 49

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

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

PMS2 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
Urinary Tract
  • Consider urinalysis annually beginning at age 25-35 years1,2
  • Consider available options for pancreatic cancer screening, including the possibility of endoscopic ultrasonography (EUS) and MRI/magnetic resonance cholangiopancreatography (MRCP). It is recommended that patients who are candidates for pancreatic cancer screening be managed by a multidisciplinary team with experience in the screening for pancreatic cancer, preferably within research protocols7

In this particular case…

Without having the more comprehensive test result from myRisk showing that she has Lynch syndrome (due to a PMS2 mutation). It would not have been apparent from her family history that she should already be getting annual colonoscopies immediately rather than waiting until age 50, as recommended for the general population (or a patient with a second-degree relative with colon cancer under 50). In fact, she’s already a year behind on her first recommended colonoscopy. Additionally, knowing her increased risk for gynecological cancers will change how she is managed today. This patient is here for a contraception consult and knowing her increased risk to develop endometrial and ovarian cancers will help the provider to prescribe a form of contraception that will also help to reduce her risk of cancer, such as progestin-based oral contraceptives.

Myriad myRisk Hereditary Cancer test increases mutation detection by 40-50% in patients appropriate for HBOC or Lynch testing.3-5

Myriad myRisk is revolutionizing hereditary cancer



  1. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Genetic/Familial High-Risk Assessment: Colorectal.v 1.2016. July 13. 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. 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.
  4. Yurgelun, MB., et al., Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients with Suspected Lynch Syndrome, Gastroenterology, 2015 Sep;149(3):604-13.e20. doi: 10.1053/j.gastro.2015.05.006. Epub 2015 May 14.
  5. Tung, et al. Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients with Breast Cancer. J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14.
  6. Saam, et al. (2014, March) Evaluating the personal and family history overlap between hereditary cancer syndromes. Presented at the NCCN Annual Conference, Hollywood, FL.
  7. Canto, MI, et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013 62:339-47. PMID: 23135763.
  8. Provenzale D, et al. NCCN Clinical Practice Guidelines in Oncology® Colorectal Cancer Screening v 1.2016. Aug 19. Available at

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