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©2013 UpToDate ® Print Email National Comprehensive Cancer Network criteria for consideration of BRCA1/2 genetic testing A. Individual from a family with a known deleterious BRCA1/BRCA2 mutation*•Δ B. Personal history of breast cancer◊ plus one or more of the following: Diagnosed age ≤45 years Diagnosed age ≤50 years with ≥1 first, second, or third-degree blood relative with breast cancer ≤50 years and/or ≥1 first, second, or third-degree blood relative with epithelial ovarian/fallopian tube/primary peritoneal cancer at any age Two breast primaries§ when first breast cancer diagnosis occurred ≤50 years Diagnosed ≤60 years with a triple negative breast cancer Diagnosed ≤50 years with a limited family historyΔ Diagnosed at any age with ≥2 first, second, or third-degree blood relatives with breast and/or epithelial ovarian/fallopian tube/primary peritoneal cancer at any age Diagnosed at any age with ≥2 first, second, or third-degree blood relatives with pancreatic cancer at any age First, second, or third-degree male blood relative with breast cancer For an individual of ethnicity associated with higher mutation frequency (eg, Ashkenazi Jewish), no additional family history may be required¥ C. Personal history of epithelial ovarian/fallopian tube/primary peritoneal cancer D. Personal history of male breast cancer E. Personal history of pancreatic cancer at any age with ≥2 first, second, or third-degree blood relatives with breast and/or ovarian cancer and/or pancreatic cancer at any age F. Family history only������: First or second-degree blood relative meeting any of the above criteria Third-degree blood relative with breast cancer◊ and/or ovarian/fallopian tube/primary peritoneal cancer with ≥2 first, second, or third-degree blood relatives with breast cancer (at least one breast cancer ≤50 years) and/or ovarian/fallopian tube/primary peritoneal cancer

First or second-degree blood relative meeting any of the above criteria Third-degree blood relative with breast cancer◊ and/or ovarian/fallopian tube/primary peritoneal cancer with ≥2 first, second, or third-degree blood relatives with breast cancer (at least one breast cancer ≤50 years) and/or ovarian/fallopian tube/primary peritoneal cancer * One or more of these criteria is suggestive of hereditary breast/ovarian cancer syndrome that warrants further personalized risk assessment, genetic counseling, and management. The maternal and paternal sides should be considered independently. Other malignancies reported in some hereditary breast/ovarian cancer syndrome families include prostate and melanoma. • Patients who have received an allogeneic bone marrow transplant should not have molecular genetic testing via blood or buccal samples due to unreliable test results from contamination by donor DNA. If available, DNA should be extracted from a fibroblast culture. If the source of DNA is not possible, buccal samples can be considered, subject to the risk of donor DNA contamination. Δ Individuals with a limited family history, such as fewer than two first- or second-degree female relatives or female relatives surviving beyond 45 years in either lineage, may have an underestimated probability of a familial mutation. ◊ For the purposes of these guidelines, invasive and ductal carcinoma in situ breast cancers should be included. § Two breast primaries include bilateral (contralateral) disease or two or more clearly separate ipsilateral primary tumors either synchronously or asynchronously. ¥ Testing for Ashkenazi Jewish founder-specific mutation(s) should be performed first. Full sequencing may be considered if ancestry also includes non-Ashkenazi Jewish relatives or other hereditary breast/ovarian cancer criteria are met. Founder mutations exist in other populations. ‡ Testing of unaffected family members should only be considered when no affected family member is available, and then the unaffected family member with the highest probability of mutation should be tested. Significant limitations of interpreting test results should be discussed. National Comprehensive Cancer Network, v1.2012 ( www.nccn.org ).