Table 2. Characteristics of Common Models for Estimating the Likelihood of a BRCA 1/2 Mutation
| Myriad Prevalence Tables [72] | BRCAPRO [75,98] | BOADICEA [75,88] | Tyrer-Cuzick [107] | |
| AJ = Ashkenazi Jewish; BOADICEA = Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm; FDR = first-degree relatives; SDR = second-degree relatives. | ||||
| Method | Empiric data from Myriad Genetics based on family and personal history reported on requisition forms | Statistical model | Statistical model | Statistical model |
| Features of the Model | Proband may or may not have breast or ovarian cancer | Proband may or may not have breast or ovarian cancer | Proband may or may not have breast or ovarian cancer | Proband must be unaffected |
| Considers age of breast cancer diagnosis as <50 y, >50 y | Considers exact age at breast and ovarian cancer diagnosis | Considers exact age at breast and ovarian cancer diagnosis | Also includes reproductive factors and body mass index to estimate breast cancer risk | |
| Considers breast cancer in ≥1 affected relative only if diagnosed <50 y | Considers prior genetic testing in family (i.e., BRCA1/BRCA2 mutation–negative relatives) | Includes all FDR and SDR with and without cancer | ||
| Considers ovarian cancer in ≥1 relative at any age | Considers oophorectomy status | Includes AJ ancestry | ||
| Includes AJ ancestry | Includes all FDR and SDR with and without cancer | |||
| Very easy to use | Includes AJ ancestry | |||
| Limitations | Simplified/limited consideration of family structure | Requires computer software and time-consuming data entry | Requires computer software and time-consuming data entry | Designed for individuals unaffected with breast cancer |
| Early age of breast cancer onset | Incorporates only FDR and SDR; may need to change proband to best capture risk and to account for disease in the paternal lineage | Incorporates only FDR and SDR; may need to change proband to best capture risk | ||
| May overestimate risk in bilateral breast cancer [108] | ||||
| May perform better in Caucasians than minority populations [102,109] | ||||
References
- Frank TS, Manley SA, Olopade OI, et al.: Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 16 (7): 2417-25, 1998. [PUBMED Abstract]
- Parmigiani G, Berry D, Aguilar O: Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 62 (1): 145-58, 1998. [PUBMED Abstract]
- Antoniou AC, Pharoah PP, Smith P, et al.: The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 91 (8): 1580-90, 2004. [PUBMED Abstract]
- Katki HA: Incorporating medical interventions into carrier probability estimation for genetic counseling. BMC Med Genet 8: 13, 2007. [PUBMED Abstract]
- Kurian AW, Gong GD, John EM, et al.: Performance of prediction models for BRCA mutation carriage in three racial/ethnic groups: findings from the Northern California Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev 18 (4): 1084-91, 2009. [PUBMED Abstract]
- Tyrer J, Duffy SW, Cuzick J: A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 23 (7): 1111-30, 2004. [PUBMED Abstract]
- Ready KJ, Vogel KJ, Atchley DP, et al.: Accuracy of the BRCAPRO model among women with bilateral breast cancer. Cancer 115 (4): 725-30, 2009. [PUBMED Abstract]
- Huo D, Senie RT, Daly M, et al.: Prediction of BRCA Mutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States. J Clin Oncol 27 (8): 1184-90, 2009. [PUBMED Abstract]
