BRCA screening tools
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Twinkle Singh, M.B.B.S. [2]
Overview
The presence of potentially harmful BRCA mutations can be detected by using genetic sequencing tests. Several screening tools have been developed for primary care providers in order to identify women at high risk of breat cancer and who should be referred for in depth genetic counseling and genetic testing. The U.S. Preventive Services Task Force (USPSTF) evaluated few of the available screening tools which include the Ontario Family History Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool and FHS-7. Among the above mentioned tools, Referral Screening Tool and FHS-7 are the most convenient to use; however, the USPSTF did not find sufficient evidence to support one screening tool over another.[1]
Ontario Family History Assessment Tool
| Risk Factor | Points |
| Breast and ovarian cancer | |
|---|---|
| Mother | 10 |
| Sibling | 7 |
| Second/third degree relative | 5 |
| Breast cancer relative | |
| Parent | 4 |
| Sibling | 3 |
| Second/third degree relative | 2 |
| Male relative | 2 |
| Breast cancer characteristics | |
| Onset at age 20-29 y | 6 |
| Onset at age 30-39 y | 4 |
| Onset at age 40-49 y | 2 |
| Premenopausal/perimenopausal | 2 |
| Bilateral/multifocal | 3 |
| Ovarian cancer relative | |
| Mother | 7 |
| Sibling | 4 |
| Second/third degree relative | 3 |
| Age at ovarian cancer onset | |
| <40 y | 6 |
| 40-60 y | 4 |
| >60 y | 2 |
| Age at prostate cancer onset | |
| <50 y | 1 |
| Age at colon cancer onset | |
| <50 y | 1 |
Patients having a total score of equal to or more than ten should be referred to genetic testing for presence of potentially harmful BRCA mutations. Lifetime risk for breast cancer doubles with a score of more than ten.[1][2]
References
- ↑ 1.0 1.1 Moyer VA (2013). "Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement". Ann Intern Med. doi:10.7326/M13-2747. PMID 24366376.
- ↑ Gilpin CA, Carson N, Hunter AG (2000). "A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center". Clin Genet. 58 (4): 299–308. PMID 11076055.