Who Should Consider Genetic Testing for Cancer Risk?

Genetic testing and counseling can provide information that could improve the delivery of care. Consider referring a patient for a genetic risk assessment if there is a personal or family history (1st or 2nd degree relative) that fits any one of the below criteria. This serves only as a referral guideline and does not include all indications for genetic counseling and testing.

  • Breast cancer ≤50 years
  • Triple negative breast cancer
  • Ovarian cancer
  • Colon cancer ≤50 years
  • Endometrial cancer
  • Multiple primaries in the same person (paired or different organs)

Has Your Patient Already Been Tested?

You may want to refer a patient with questions about their results for post-test genetic counseling. Please provide a copy of any test report(s). Findings that our expert genetic counselors can help explain include:

  • Mutation detected in an inherited cancer gene
  • Negative genetic test results with strong personal/family history of cancer
  • Interpretation of a variant of uncertain significance

Additional Referral Information to Consider

  • Hereditary Breast and Ovarian Cancer Syndrome (BRCA1/2)
    • Breast cancer diagnosed ≤45 years
    • Triple negative breast cancer ≤60 years
    • Two breast primaries
    • Breast cancer and Ashkenazi Jewish ancestry
    • Male breast cancer
    • Ovarian cancer
    • 3 or more family members with breast, ovarian, pancreatic, and/or “aggressive” (Gleason ≥7) prostate (especially if <50 years) cancer

  • Lynch Syndrome
    • Colon cancer ≤50 years
    • Endometrial cancer ≤50 years
    • Abnormal tumor testing (MMR immunohistochemistry, MSI high, etc.)
    • 3 or more of the following cancers in a family: biliary tract, brain, colorectal, gastric, ovarian, pancreatic, renal pelvis, sebaceous adenomas, small bowel, ureter, and/or uterine

  • Hereditary Melanoma
    • 3 diagnoses of melanoma and/or pancreatic cancer in a family

  • Li-Fraumeni Syndrome (TP53)
    • 3 or more of the diagnoses in a family: sarcomas, osteosarcomas, leukemia, adrenocortical carcinoma, brain tumors, and/or rare childhood cancers (especially at young ages)
    • Breast cancer diagnosed <31 years

  • Cowden Syndrome (PTEN)
    • Individual with 2 or more: breast cancer, endometrial cancer, macrocephaly, non-medullary thyroid cancer, and/or dermatologic manifestations of Cowden syndrome

  • Hereditary Polyposis (e.g., APC)
    • Ten or more colorectal polyps

  • Hereditary Diffuse Gastric Cancer (CDH1)
    • 3 diagnoses diffuse gastric cancer and/or lobular breast cancer in a family
    • Diffuse gastric cancer diagnosed <40 years

  • Endocrine Cancer Syndromes
    • History of 2 or more foregut carcinoids, pancreatic cancers, parathyroid hyperplasia, and/or pituitary adenomas
    • Medullary thyroid cancer
    • Paraganglioma or pheochromocytoma
    • Thymic gland carcinoids

  • Other
    • Neurofibromatosis
    • 3 diagnoses of the same type of cancer in the family
    • Personal history of chromophobe, oncocytic and/or hybrid renal tumors
    • Sex cord tumors with annular tubules
    • An individual with ≥3 primary cancers
    • An individual with young cancer diagnoses (<50 years)

Contact Us:

Our genetic counseling and testing service includes board-certified clinical geneticists and a team of board-certified genetic counselors. We offer patients a comprehensive evaluation for hereditary cancer risk prior to initiation of genetic testing as well as provide guidance following receipt of genetic test results.

To refer a patient to our Genetic Risk Assessment Service, call 1-888-MOFFITT or complete our online form or reach out to a physician liaison. We respond to most online referrals on the same business day in which they are received, helping to shorten referral times and give patients prompt access to important information.