NCCN Updates Guidelines for Genetic Testing related to Breast, Ovarian and Pancreatic cancer.

Pancreatic (and prostate) cancer were already part of these guidelinesbut the title expansion may help with clarity. 

Last week, the National Comprehensive Cancer Network (NCCN) again updated guidelines related to genetic testing, this time adding Pancreatic Cancer to the title: “Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic.” The guidelines can be accessed here. The Below are some of the highlights. 


The section related to cancer risk assessment and counseling was extensively revised.

Pages 7-11 lay out the important elements for 1) pre-test counseling; 2) consideration of the most appropriate tests to order; 3) post-test counseling upon results disclosure.

While much of this information was included in previous versions of guidelines, the organization and presentation of the information has also been improved. 


“Pancreatic Cancer Screening” section is new

The two-page pancreatic cancer screening section summarizes emerging data on the efficacy of pancreatic cancer screening, specifically in patients with associated hereditary cancer mutations or significant family history.

NCCN reiterates that this screening should ideally be performed in a research setting and is not currently recommended for carriers of mutations in genes other than STK11and CDKN2A in the absence of a family history of (exocrine) pancreatic cancer.

For individuals with an associated hereditary cancer mutation and two or more relatives with pancreatic cancer, guidelines now suggest to “Consider pancreatic cancer screening beginning at age 50 years”—or 10 years prior to the earliest diagnosis in the family.

Hereditary pancreatitis also made it into this section, with consideration of pancreatic cancer screening 20 years after onset of pancreatitis or at age 40—for those with mutations in PRSS1, other hereditary pancreatitis genes AND a clinical phenotype consistent with hereditary pancreatitis. 

Guidelines now also clarify that the type of pancreatic cancer referred to is exocrine pancreatic cancer (the most common type, of which the most common subtype is pancreatic adenocarcinoma), distinguishing from endocrine tumors, which have their own guidelines and quite different possible genetic associations.

Check out this past blog post for previous NCCN guideline expansions related to hereditary cancer testing and personal or family history of pancreatic cancer.


Were criteria related to breast cancer expanded?

Not exactly. But in addition to stating that women ≥ 5% risk of a carrying a hereditary cancer mutation (based on prior probability models) meet criteria for testing, the guidelines now also state that women ≥2.5% risk of carrying a hereditary cancer mutation “may be considered” for testing. While ASBS has recommended genetic testing for all women with breast cancer, NCCN emphasizes that there is a <2.5% probability that testing will have clinical utility for women diagnosed with breast cancer over the age of 65 with no close relatives with breast, ovarian, pancreatic, or prostate cancer.

Check out this past blog post for a summary of previous and significant NCCN guideline expansions related to breast cancer.


Were criteria related to ovarian cancer expanded?

No. All women with ovarian cancer (still) meet criteria for hereditary cancer testing. This has been true for over a decade! Individuals with a first- or second-degree relative diagnosed with ovarian cancer also meet criteria for testing. Not new, but still under-recognized and under-implemented


What About Prostate Cancer?  

While Prostate Cancer didn’t make it into the title of this guideline, there is another existing guideline Early Detection of Prostate Cancer, which does mention hereditary cancer risk and refer also refers back to these broader hereditary cancer testing guidelines. Guidelines related to hereditary cancer testing for men with prostate cancer were also updated earlier this year


Is there more to come? 

These guidelines are 117 pages long, and starting with the beginning of the Discussion section (page 35) through the end, the pages are watermarked with “Discussion update in progress.” So expect another update reflecting changes to the Discussion section at minimum!

For Healthcare Providers

  • If you currently offer genetic testing related to hereditary cancer risk in your practice or are considering doing so, review pages 7-11 of the guidelines to make sure that you are aware of the recommended pre- and post-test counseling elements as well as considerations related to testing. 
  • If you have a genetic counselor within your hospital or medical practice, reach out to them to talk about when and how to refer patients and how you can work together better.
  • Overwhelmed? Grey Genetics can help! Whether you’re looking for pre- and post-test genetic counseling, we can customize a solution that works best for your practice. Provide us with some information about your practice needs by filling out this form, or just send us an email

Do you meet genetic testing criteria for hereditary breast cancer risk?