by Lisa Rezende, PhD
People with hereditary cancer face many decisions, such as whether or not to have genetic testing, choosing the best type and frequency of cancer screening, and whether or not to manage cancer risk through surgery. Health care providers look to national guidelines to give their patients advice as they make these difficult decisions.
An important set of guidelines for the hereditary cancer community comes from the National Comprehensive Cancer Network (NCCN), a nonprofit network of 26 leading cancer centers. NCCN guidelines outline best practices for treatment and risk management; they are developed and updated by experts in the field, and updated with evidence-based guidelines as new research is published.
In February, the guidelines regarding managing care for people at high risk of breast and ovarian cancer were published. The new guidelines include recommendations for people with mutations in BRCA1, BRCA2, PALB2, CHEK2, ATM, BRIP1, RAD51C, and RAD51D, and expand NCCN recommendations for genetics evaluation. For more information, please see the FORCE risk management guideline pages.
What does this mean for you?
If you have cancer and are considering genetic testing:
NCCN guidelines now recommend genetics evaluation for anyone with:
- blood relatives with a known mutation in a gene that increases cancer risk.
- breast cancer at or before age 50.
- triple-negative breast cancer at or before age 60.
- two breast cancer diagnosis (either in the same breast or cancer in both breasts)
- ovarian, fallopian tube, or primary peritoneal cancer at any age.
- male breast cancer at any age.
- Ashkenazi Jewish ancestry with breast, ovarian, or pancreatic cancer at any age.
If you have a family history of cancer and are considering genetic testing:
NCCN guidelines recommend genetics evaluation for anyone with one or more of the following:
- A blood relative with a known mutation in a gene that increases cancer risk
- A blood relative with two or more primary breast cancers
- Two or more relatives on the same side of the family with breast cancer; at least one diagnosed before age 50
- A blood relative with ovarian cancer
- A close blood relative (parent, sibling, or child) with breast cancer before age 45
- A blood relative with male breast cancer
The guidelines also recommend genetics evaluation for anyone with a personal or family history of three or more of the following, especially if any are diagnosed before age 50:
- Pancreatic cancer
- Prostate cancer
- Adrenal cancer
- Brain tumors
- Uterine cancer
- Thyroid cancer
- Kidney cancer
- Diffuse gastric cancer
- Colon cancer
For more information on genetic counseling and testing, see our “Should I get testing?” page.
If you are a woman with a mutation in PALB2:
NCCN guidelines now recommend annual breast MRI starting at age 25, and discussion of potential risk-reducing mastectomy for women with mutations in PALB2. The guidelines note that current evidence is insufficient to support a recommendation to remove ovaries and fallopian tubes in women with PALB2 mutations.
If you are a woman with a mutation in CHEK2:
NCCN guidelines now recommend annual breast MRI starting at age 25 for women with mutations in CHEK2. The guidelines note that current evidence is insufficient to support a recommendation to discuss the option of risk-reducing mastectomy.
If you are a woman with a mutation in BRIP1, RAD51C, or RAD51D:
NCCN guidelines now recommend that women with mutations in BRIP1, RAD51C, or RAD51D consider risk-reducing removal of ovaries and fallopian tubes. The guidelines note that current evidence is insufficient to recommend breast MRI based on mutation status alone, however, women may qualify for MRI based on their family history of breast cancer.
If you are a woman with a BRCA1/2 mutation:
Current NCCN guidelines continue to recommend risk-reducing removal of the ovaries and fallopian tubes for all women with BRCA mutations. The 2016 guidelines define the optimal timing for this surgery as:
- between ages 35 and 40 or upon completion of childbearing.
- ages 40 to 45 in women with BRCA2 mutations. The guidelines note that it is “reasonable” for these women to delay these risk-reducing surgeries because their average onset of ovarian cancer is 8 to 10 years later than in women with BRCA1 mutations.
Guidelines for breast cancer screening and risk reduction for women with BRCA mutations did not change.
If you are a man with a BRCA mutation:
Risk management for men with BRCA mutations did not change. FORCE maintains current risk management guidelines for men with BRCA mutations on our website.
Why are there no guidelines for my gene mutation?
NCCN guidelines are evidence-based. As such, they are limited by the amount of quality research available to the expert panel. This can be frustrating for patients who are trying to make decisions about managing cancer risk from mutations in genes that are not currently covered by NCCN guidelines. The guidelines are updated each year, so as more research becomes available, a consensus will be reached on how to manage cancer risk in men and women with mutations in genes other than BRCA1 and BRCA2.
If I meet NCCN guidelines for screening or surgery, does this mean that my insurance must cover it?
Unfortunately, the answer is no. While many insurance companies use NCCN and other expert guidelines as standard of care for coverage determination, they are under no legal obligation to cover services recommended by the NCCN. However NCCN guidelines are often the basis of successful insurance appeals. If you have been denied a service that is recommended by NCCN guidelines, please see our insurance appeals section to learn more about submitting an appeal and to access our template appeal letters. We also encourage you to take our Insurance Coverage for the HBOC Community Survey.
FORCE will continue to monitor changes in national guidelines and to advocate for critical research that will help people affected by hereditary breast, ovarian, and related cancers make the best decisions to manage their cancer risk.
Tags: brca, BRCA 1, BRCA 2, brca research, brca testing, BRCA1, BRCA2, breast cancer, breast cancer early detection, breast cancer prevention, BRIP 1, cancer prevention, CHEK2, gene panel testing, gene testing, Genetic counseling, HBOC, PALB2, pancreatic cancer, prostate cancer, RAD51C, RAD51D, screening and prevention