Published Online: Dec 30, 2016
Page range: 16 - 24
Received: Sep 21, 2015
Accepted: Feb 05, 2016
DOI: https://doi.org/10.1515/fco-2015-0022
Keywords
© 2016 De Gruyter Open
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BRCA1/2 associated cancer risks.
| Cancer Type | General Population Risk | Mutation Risk | |
|---|---|---|---|
| BRCA1 | BRCA2 | ||
| Breast | 12% | 50%-80% | 40%-70% |
| Second primary breast | 3.5% within 5 years Up to 11% | 27% within 5 yrs | 12% within 5 yrs 40%-50% at 20 yrs |
| Ovarian | 1%-2% | 24%-40% | 11%-18% |
| Male breast | 0.1% | 1%-2% | 5%-10% |
| Prostate | 15% (N. European origin) | <30% | <39% |
| Pancreatic | 0.50% | 1%-3% | 2%-7% |
Elements of informed consent for genetic testing of cancer susceptibility [39].
Information on the specific genetic mutation(s) or genomic variant(s) being tested, including whether the range of risk associated with the variant will impact medical care Implications of a positive and negative result Possibility that the test will not be informative Options for risk estimation without genetic or genomic testing Risk of passing a genetic variant to children Technical accuracy of the test including, where required by law, licensure of the testing laboratory Fees involved in testing and counseling and, for DTC testing, whether the counsellor is employed by the testing company Psychological implications of test results (benefits and risks) Risks and protections against genetic discrimination by employers or insurers Confidentiality issues, including, for DTC testing companies, policies related to privacy and data security Possible use of DNA testing samples in future research Options and limitations of medical surveillance and strategies for prevention after genetic or genomic testing Importance of sharing genetic and genomic test results with at-risk relatives so that they may benefit from this information Plans for follow-up after testing |
Nccn testing criteria [16].
Individual from a family with a known deleterious Personal history of breast cance Diagnosed age ≤45 years Diagnosed age ≤50 years with ≥1 first-, second-, or third-degree blood relative (on the same side of the family) with breast and/or epithelial ovarian/ fallopian tube/primary peritoneal cancer at any age, or with a limited family historyΔ Two breast primaries Diagnosed ≤60 years with a triple negative breast cancer Diagnosed ≤50 years with a limited family historyΔ Diagnosed at any age with ≥1 first-, second-, or third-degree blood relative (on the same side of the family) diagnosed with breast and/or epithelial ovarian/fallopian tube/primary peritoneal cancer ≤50 years Diagnosed at any age with ≥2 first-, second-, or third-degree blood relatives (on the same side of the family) 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 (on the same side of the family) with pancreatic cancer or aggressive prostate cancer (Gleason score ≥7) at any age First-, second-, or third-degree male blood relative (on the same side of the family) with breast cancer For an individual of ethnicity associated with higher mutation frequency (e.g. Ashkenazi Jewish), no additional family history may be required Personal history of epithelial ovarian/fallopian tube/primary peritoneal cancer Personal history of male breast cancer Personal history of pancreatic cancer or aggressive prostate cancer (Gleason score ≥7) at any age with ≥2 first-, second-, or third-degree blood relatives (on the same side of the family) with breast and/or ovarian cancer and/or pancreatic cancer or aggressive prostate cancer (Gleason score ≥7) 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 |