The American Society of Clinical Oncology has published important new recommendations regarding genetic testing of BRCA 1/2 genes for breast cancer patients. Check out details.

The Journal of ASCO (American Society of Clinical Oncology) published some recommendations for patients diagnosed with breast cancer. These recommendations also apply to the family members of these patients..

Here's a summary of the recommendations cited in the article:

1. All patients newly diagnosed with stage I-III or stage IV breast cancer/new metastatic disease who have 65 years old or younger at the time of diagnosis they should receive the BRCA1/2 test.
2. All patients newly diagnosed with stage I-III or stage IV breast cancer/new metastatic disease Over 65 years old of age should take the BRCA1/2 test if:

• they are candidates for therapy with poly (ADP-ribose) polymerase (PARP) inhibitors for early-stage or metastatic disease,
• they have triple negative breast cancer,
• your personal or family history suggests the possibility of a pathogenic variant,
• they were assigned to the male gender at birth,
• they are of Ashkenazi Jewish descent or are members of a population with a higher prevalence of founder mutations.

3. Patients who choose to undergo the BRCA1/2 test should also undergo testing for other cancer predisposition genes, as suggested by their personal or family history. Consultation with a professional with experience in clinical cancer genetics can help guide this decision-making and should be made available to patients when possible.

4. All patients diagnosed with recurrent (local or metastatic) breast cancer who are candidates for PARP inhibitor therapy should undergo the BRCA1/2 test regardless of family history.

5. The BRCA1/2 test should be offered to patients with a second primary contralateral or ipsilateral breast cancer.

6. All patients with a personal history of breast cancer diagnosed under the age of 65 and without active disease should be offered the BRCA1/2 test if the result informs personal risk management or family risk assessment.

7. All patients with a personal history of breast cancer diagnosed over 65 years of age and without active disease, who meet one of the following criteria, should take the BRCA1/2 test if the result is to inform personal risk management or family risk assessment:

• your personal or family history suggests the possibility of a pathogenic variant,
  • they were assigned to the male gender at birth,
  • they had triple negative breast cancer,
  • Are they of Ashkenazi Jewish descent or are members of a population with a higher prevalence of founder mutations (Type: Formal Consensus; Agreement: 94.87%)

8. Tests for high-penetrance genes other than BRCA1/2, including PALB2, TP53, PTEN, STK11, and CDH1, can help define the best medical therapy, influence surgical decision-making, refine risk estimates for a second primary cancer, and inform family risk assessment, and should therefore be offered to patients according to medical evaluation.

9. Testing for moderate penetrance breast cancer genes currently offers no benefits for treating the breast cancer index, but it can inform the risks of a second primary cancer or familial risk assessment and thus may be offered to appropriate patients who are undergoing the BRCA1/2 test.

10. If a multigene panel is requested, the specific panel chosen must take into account the patient's personal and family history. Consultation with a professional experienced in clinical cancer genetics may be helpful in selecting a specific multigene panel or interpreting its results and should be made available to patients when possible.

11. Patients undergoing genetic testing must receive sufficient information prior to testing and provide their consent.

12. Patients with pathogenic variants should receive individualized post-test genetic counseling and be referred to a professional experienced in clinical cancer genetics).

13. Genetic variants of uncertain significance should not alter the treatment definition. Patients should be informed that variants of uncertain significance can be reclassified as pathogenic and should understand that periodic follow-up is necessary. Consultation with a professional experienced in clinical cancer genetics may be helpful and should be made available to patients when possible.

14. Patients without a pathogenic variant in genetic testing may still benefit from counseling if there is a significant family history of cancer, and referral to a professional with expertise in clinical cancer genetics is recommended.

Link to publication: https://ascopubs.org/doi/full/10.1200/JCO.23.02225

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