Guideline: Breast surgeons recommend genetic testing for all breast cancer patients


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Anyone diagnosed with breast cancer

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Checked Her2+ breast cancer

Checked Men with breast cancer

Checked Metastatic cancer

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Checked Women under 45

Checked Women over 45

Checked Special populations: People seeking genetic testing


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Summary: 

The American Society of Breast Surgeons published statement on genetic testing for hereditary breast cancer on February 10, 2019. It includes recommendations about who should be tested. Among these is the recommendation that all breast cancer patients get genetic testing, as well as women who do not have breast cancer but fit the National Comprehensive Cancer Network (NCCN) guidelines. (3/25/19)

Contents

At a glance Questions for your doctor
Recommendations In-depth                 
Guidelines Limitations
Media Resources


AT A GLANCE

This statement update is about:

The American Society of Breast Cancer Surgeons’ recent consensus guidelines on genetic testing for hereditary cancer. These guidelines are intended to provide a framework for health care professionals to assess patients' needs for genetic testing.

Why is this important?

Breast cancer surgeons are frequently the first point of contact of a patient's healthcare team who discusses genetic testing. Awareness of an individual’s genetic mutation and related risk is important, because it may alter options or decisions for treatment or preventive care. Other professional societies have not adopted these recommendations.

Recommendations by the American Society of Breast Surgeons

1. Breast surgeons, genetic counselors, and other medical professionals who are knowledgeable in genetic testing can provide patient education, counseling and recommendations regarding genetic testing.

[FORCE recommends that patients have genetic counseling before and after genetic testing to be appropriately prepared for understanding test results and their impact. It is important to note that not all breast surgeons have received advanced training in genetics. FORCE recommends that patients seek genetic counseling from an expert with advanced training in genetics.]

2. Genetic testing should be made available to all patients with a personal history of breast cancer.

3. Patients who previously had genetic testing may benefit from updated testing.

  • Re-evaluation and updated testing should be considered for every patient who previously had genetic testing with either negative or unclear results.
  • A patient who was previously tested for BRCA1 and BRCA2 mutations and for whom no mutation was identified should be considered for additional testing, particularly in PALB2 or other potentially relevant genes or certain types of mutations (large genomic rearrangements) in BRCA1 or BRCA2 that were not included in previous testing.

4. Genetic testing should be made available to patients with no history of breast cancer who meet NCCN guidelines.

See FORCE's webpage on Genetic testing for hereditary cancer for a summary of NCCN guidelines.

5. Variants of uncertain significance are DNA sequences that are NOT clinically actionable (medical care should be managed as it would be without this result).

What does this mean for me?

If you have a family history of breast cancer, a relative with a mutation in a breast cancer gene or a personal history of breast cancer, it may be beneficial for you to consult a genetic counselor or other genetics healthcare specialist about genetic testing. If you have not had breast cancer but you test positive for a genetic mutation in a predisposing gene , you may want to consider preventive options. If you are a breast cancer survivor and you test positive for a genetic mutation in a predisposing gene, you may want to consult with your health care provider about how that might alter your treatment.

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Expert Guidelines

The guidelines summarized above are those proposed by the American Society of Breast Surgeons. Different organizations and professional societies have different guidelines. The National Comprehensive Cancer Network is a consortium of experts in cancer and genetics. They publish consensus guidelines for genetic testing for inherited mutations that increase cancer risk. Their guidelines for genetic testing for people diagnosed with breast cancer include:

  • breast cancer of any type (including ductal carcinoma in situ or DCIS) diagnosed before age 50 
  • breast cancer in both breasts or a second breast cancer in the same breast
  • triple-negative (ER-/PR-/Her2-) breast cancer before age 60
  • Ashkenazi (Eastern European) Jewish ethnicity
  • relatives with breast, ovarian, pancreatic, prostate or melanoma cancer
  • men with breast cancer

For people with HER2-negative, metastatic breast cancer, NCCN recommends BRCA testing before starting on chemotherapy to see if there may be benefit from treatment with a PARP inhibitor.

According to NCCN, cancer risk assessment and genetic counseling is highly recommended before genetic testing is offered (pre-test counseling) and after results are disclosed (post-test counseling). A genetic counselor, medical geneticist, oncologist, surgeon, oncology nurse, or other health professional with expertise and experience in cancer genetics should be involved early in the counseling of patients.

Questions To Ask Your Health Care Provider

  • Should I consider genetic testing given my personal and/or family history?
  • How do I find a genetic counselor?
  • How does my mutation alter my prevention or treatment options?

IN-DEPTH 

Background:

An estimated 266,000 new cases of invasive breast cancer and an estimated 40,000 related deaths occur annually in the U.S. About ten percent of these patients will have a mutation in a breast cancer gene.

Identification of women and men with increased risk of breast cancer due to a gene mutation offers the possibility of preventive action. For individuals without cancer this can include increased surveillance, risk-reducing surgery or chemoprevention.

  • Enhanced screening is recommended for patients with mutations in ATM, CDH1, CHEK2, NBN, NF1, PALB2 and STK11.
  • For BARD1, MSH2, MLH1, MSH6, PMS2, EPCAM, BRIP1, RAD51C and RAD51D some data suggests an elevated lifetime risk of breast cancer and may not warrant different breast cancer risk management. However, preventive issues may need to be considered regarding increased risk of other cancers (ovarian cancer for several mutations or colorectal cancer for people with mutations in Lynch syndrome genes PMS2 and MSH6).

For individuals with breast cancer, knowledge of having a mutation can alter treatment options or follow-up plans. Patients with risk-increasing mutations can make more educated decisions about surgical removal of their contralateral (healthy) breast to lower the risk of breast cancer and removal of their ovaries and Fallopian tubes to reduce both breast and ovarian cancer risk. PARP inhibitors were recently approved for treating metastatic breast cancer patients with BRCA mutations. Studies are underway to determine their usefulness as treatment for early-stage breast cancer.

  • Radiation is not recommended for individuals with TP53 mutations because of the increased risk of radiation-induced cancers.

Identification of a mutation in one person also indicates that other family members may have similar heightened risk; they may also want to speak to a genetic counselor who can explain whether they should also consider testing and possibly preventive options.

Despite efforts to identify individuals who may have a mutation in a breast cancer gene, many mutation carriers remain untested and undetected. In studies of genetic testing in unselected cases, 50% of people with a mutation would be missed by NCCN guidelines. In some cases, this is due to small family size (i.e., lack of other cancers in the family) or lack of knowledge of a family’s medical history. The American Society of Breast Surgeons met to create a consensus guideline for evaluating patients for genetic testing. 

Consensus statement recommendations with details

1. Breast surgeons, genetic counselors and other medical professionals who are knowledgeable in genetic testing can provide patient education, counseling, and recommendations regarding genetic testing.

  • Referral to a genetic counselor or genetics professional may be useful for patients who have a medical history or test results that are complex.
     
    • Pre-test counseling improves risk perception accuracy and follow through for testing. Pre-test counseling should include discussion of the types of results that are possible and that testing may not yield clear actionable results. Studies show pre-test counseling reduces distress, improves risk understanding and follow through with testing.
       
    • Post-test counseling is important regardless of the actual result including inconclusive results. NCCN guidelines indicated post-test counseling is current best practice. This allows patients to ask questions and understand the implications and limitations of their results.

[FORCE recommends genetic counseling before and after genetic testing for patients to be appropriately prepared to understand their results and impact of those results. It is important to note that not all health care professionals have had advanced training in genetics. Visit the FORCE website for information on how to find an expert in cancer genetics.]

  • There is no consensus about which genes should be tested.
    • Testing should include BRCA1, BRCA2 and PALB2 with other genes as appropriate for the clinical scenario and family history. These include but are not limited to Li-Fraumeni syndrome genes (TP53), Cowden syndrome gene (PTEN), diffuse gastric cancer syndrome gene (CDH1), Peutz-Jagher syndrome gene (STK11).
       
    • Although the ASBS guidelines suggest that evidence is insufficient to warrant changes in breast cancer risk management, there is a growing recognition that mutations in some Lynch syndrome genes (namely MSH6 and PMS2) increase breast cancer risk. See XRAYS review of Lynch syndrome genes and breast cancer here (https://www.facingourrisk.org/XRAYS/lynch-syndrome-breast-cancer). Genetic testing for mutations in these Lynch syndrome genes may also be warranted.
       
    • There is no consensus about risk and clinical management of mutations in some genes.

2. Genetic testing should be made available to all patients who have a personal history of breast cancer.

  • Identification of a mutation may impact treatment recommendations and systemic therapy.
  • Family members may be offered genetic testing and tailored risk reduction strategies.

3. Patients who previously had genetic testing may benefit from updated testing.

  • Every patient who has already had genetic testing and with a negative result should be re-evaluated and should also consider having updated testing.
     
  • Patients who were tested for mutations in BRCA1 and BRCA2 and for whom no mutation was identified and have no known BRCA1 or BRCA2 mutation in the family should be considered for additional testing, particularly in PALB2 or other potentially relevant genes or certain types of mutations (large genomic rearrangements) in BRCA1 or BRCA2 (that were not previously tested).

4. Genetic testing should be made available to patients who do not have a history of breast cancer, but who meet NCCN guidelines.

  • Whenever possible, individuals without breast cancer should be informed that first testing a relative who has cancer may be more informative.
     
  • When it is not feasible to test the affected relative first, then the person without cancer should be considered for testing if they are interested, with careful pre-test counseling to explain the limited value of "uninformative negative" results.
     
  • It is reasonable to order a multi-gene panel:
    • If the family history is incomplete (i.e., a case of adoption or uncertainty of the type of cancer affecting family members)
    • If the family history includes other cancers

[See FORCE's webpage on Genetic testing for hereditary Cancer for a summary of NCCN guidelines.

5. Variants of uncertain significance are DNA sequences that are NOT clinically actionable (medical care should be managed as it would be without this result).

  • The effect of a variant of uncertain significance (VUS) is unknown. Patient care should be based on the individual’s risk factors and not influenced by a VUS result.

[See FORCE’s page on VUS for more information.}

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Limitations:

These guidelines reflect the opinion of the American Society of Breast Surgeons given the current state of knowledge about the genes that increase breast cancer risk. Other professional organizations have not adopted these guidelines as of yet. As new information is available about additional genes or mutations in known genes, recommendations about testing and which results are actionable are expected to change.

Conclusions:

The American Society of Breast Surgeons released a consensus statement recommending that genetic testing should be made available to all patients with a personal history of breast cancer. Genetic counseling before and after genetic testing is recommended. Every patient who has previously had genetic testing with a result of no pathogenic variant identified should be re-evaluated and updated testing considered. Genetic testing should be made available to patients who do not have a history of breast cancer but who meet NCCN guidelines.

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Posted 3/25/19

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