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Updates to the Practice Guidelines for Hereditary Cancer

November 09, 2018

Updates to the Practice Guidelines for Hereditary Cancer

by Piri Welcsh

The National Comprehensive Cancer Network (NCCN) is a nonprofit network of 27 leading cancer centers. The NCCN publishes evidence-based guidelines for oncology. These guidelines help to set the standard of care. Guidelines are updated annually as new research is published.  Below we highlight several recent updates, which are important to the hereditary cancer community.

Terminology

The NCCN changed their terminology for inherited mutations. They now use the term “pathogenic or likely pathogenic variant” instead of the term “mutation” when referring to a difference in a gene that is believed to be harmful. This new labeling does not affect patient care. Genetics experts usually treat “pathogenic” and “likely pathogenic” variants the same, and both are assumed to increase risk for specific conditions.

Genetic testing for men with metastatic prostate cancer

New NCCN guidelines indicate that genetic counseling and testing should be considered for all men with high risk, very high risk, regional, or metastatic prostate cancer. Importantly, testing should include BRCA, ATM, PALB2, FANCA and also the Lynch syndrome genes–depending on family history.

The updated guidelines also highlight who may benefit from tumor testing, and treatment implications based on both tumor and genetic testing results.

What does this mean for patients?

  • If you have advanced prostate cancer, ask your healthcare provider about genetic counseling, genetic testing and tumor testing.
  • If you have prostate cancer that is not advanced but have a family history of cancer, ask your healthcare provider about genetic counseling and testing.

Genetic testing for breast cancer

If you have had breast cancer and were told that you did not meet criteria for genetic testing you may now meet criteria. For example, guideline updates include many more women diagnosed after the age of 50. Now, a woman diagnosed with breast cancer at any age meets criteria if she has even one close relative with pancreatic cancer or metastatic prostate cancer. All men with breast cancer meet criteria for genetic counseling and testing.

These new criteria are important.  They help identify women who inherited a mutation from their father rather than their mother. They also help to reach people who may have more male than female relatives. In a family with a paternally inherited BRCA mutation or few aunts, there may not be much or any family history of breast cancer. However, there may still be a family history of pancreatic or prostate cancer.

The new guideline updates also include more women with no personal history of cancer. Women who have no personal history of cancer but have a first- or second-degree relative who does have a personal history of breast cancer and who, in turn, has a close relative with pancreatic or metastatic prostate cancer, also meet criteria for testing.

Further, women with advanced breast cancer may now qualify for genetic testing to see if they may benefit from new treatments known as PARP inhibitors.

What does this mean for patients?

  • If you have a personal or family history of breast cancer, pancreatic cancer, or metastatic prostate cancer, you may now meet criteria for genetic testing—even if you were previously told that you did not qualify for testing.
  • If you have been diagnosed with metastatic breast cancer, genetic testing may open up new treatment options.

Genetic testing for pancreatic cancer

All patients with pancreatic cancer now meet guidelines for genetic testing regardless of your age at diagnosis or family history. Over 55,000 new cases of pancreatic cancer are estimated for 2018. All of these individuals now meet criteria for testing.

Individuals who do not have a personal history of cancer but who have a first- or second-degree relative with pancreatic cancer also meet criteria for testing.

What does this mean for patients?

  • If you have pancreatic cancer, you now meet criteria for genetic testing.
  • If you have not been diagnosed with cancer but have a close relative with pancreatic cancer, you now meet criteria for genetic testing.

Visit our guidelines page and NCCN for more information about their guidelines.

 

 

 

Posted in: Guidelines
Tags: BRCA , Breast Cancer , Genetic Testing , Prostate Cancer , PALB2 , ATM , Lynch Syndrome , Men With Mutations , NCCN , FANCA

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