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The American Society of Clinical Oncology recommends that: 

“All women diagnosed with epithelial ovarian cancer should be offered germline genetic testing for BRCA1, BRCA2, and other ovarian cancer susceptibility genes, irrespective of their clinical features or family cancer history. 

Somatic tumor testing for BRCA1 and BRCA2 pathogenic or likely pathogenic variants should be performed in women who do not carry a germline pathogenic or likely pathogenic BRCA1/2 variant (Type: evidence-based, benefits outweigh harms; Evidence quality: intermediate; Strength of recommendation: strong).” (Konstantinopoulos, et al., 2020, p. 1223)

Genetic counseling before genetic testing for hereditary breast and ovarian cancer is important to determine whether you and your family are likely enough to have a mutation that is worth getting tested. Usually, genetic testing is recommended if you have:

  • A family history of breast and ovarian cancer 
  • Ashkenazi Jewish or Eastern European ancestry
  • A personal history of breast cancer and meet certain criteria (related to the age of diagnosis, type of cancer, presence of certain other cancers or cancer in both breasts, ancestry, and family health history)
  • A personal history of the ovarian, fallopian tube, or primary peritoneal cancer
  • A known BRCA1, BRCA2, or other inherited mutation in your family
  • The same family or a single-family member has two or more primary types of BRCA1– or BRCA2-related cancers (e.g., breast, ovarian cancers)
  • A family history of cases of male breast cancer

When an individual has a family history that is suggestive of the presence of a BRCA1 or BRCA2 mutation, it may be most informative to first test a family member who has cancer, if that person is still alive and willing to be tested. If that person has a harmful BRCA1 or BRCA2 mutation, then other family members may want to consider genetic counseling to learn more about their potential risks and whether genetic testing for mutations in BRCA1 and BRCA2 might be appropriate for them.

If it can’t be determined whether the family member with cancer has a harmful BRCA1 or BRCA2 mutation, members of a family whose history is suggestive of the presence of a BRCA1 or BRCA2 gene mutation may still want to consider genetic counseling for possible testing.

Some individuals—for example, those who were adopted at birth—may not know their family history. If a woman with an unknown family history has an early-onset breast cancer or ovarian cancer or a man with an unknown family history is diagnosed with breast cancer, that individual may want to consider genetic counseling and testing for a BRCA1 or BRCA2 mutation.

Cancer screening for men with BRCA1 and BRCA2 mutations

Men with BRCA1 and BRCA2 mutations are more likely to get breast cancer and high-grade prostate cancer than other men. Both men and women with BRCA mutations are more likely to get pancreatic cancer. If you are a man with a BRCA1 or BRCA2 mutation, your doctor may recommend the following:

  • Breast self-exam training and education starting at age 35
  • Yearly clinical breast exams starting at age 35
  • Prostate cancer screening starting at age 45, especially for men with a BRCA2 mutation

Professional societies do not recommend that children under age 18, even those with a family history suggestive of a harmful BRCA1 or BRCA2 mutation, undergo genetic testing for BRCA1 or BRCA2. This is because there are no risk-reduction strategies that are specifically meant for children, and children’s risks of developing a cancer type associated with a BRCA1 or BRCA2 mutation are extremely low.

Sources:

  1. Konstantinopoulos, P. A., Norquist, B., Lacchetti, C., Armstrong, D., Grisham, R. N., Goodfellow, P. J., Kohn, E. C., Levine, D. A., Liu, J. F., Lu, K. H., Sparacio, D., & Annunziata, C. M. (2020). Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline. Journal of Clinical Oncology, 38(11), 1222–1245. https://doi.org/10.1200/JCO.19.02960
  2. Courtesy of National Cancer Institute: BRCA Mutations: Cancer Risk and Genetic: https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet#how-much-does-having-a-brca1-or-brca2-gene-mutation-increase-a-womans-risk-of-breast-and-ovarian-cancer, accessed on August 14th, 2020.
  3. Courtesy of the Centers of Disease Control and Prevention: Genetic Testing for Hereditary Breast and Ovarian Cancer, https://www.cdc.gov/genomics/disease/breast_ovarian_cancer/testing.htm, accessed on August 14th, 2020.
  4. Courtesy of National Cancer Institute: BRCA Mutations: Cancer Risk and Genetic Testing,  https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet#how-much-does-having-a-brca1-or-brca2-gene-mutation-increase-a-womans-risk-of-breast-and-ovarian-cancer, accessed on August 14th, 2020.
  5. https://www.cdc.gov/genomics/disease/breast_ovarian_cancer/medical_options.htm, accessed on August 14th, 2020.

Additional Readings:

  1. NOCC: Am I at Risk for Ovarian Cancer? Ovarian Cancer Risk Factors, http://www.ovarian.org/about-ovarian-cancer/am-i-at-risk
  2. National Cancer Institute: BRCA Mutations: Cancer Risk and Genetic Testing, https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet

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