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Genetics of Breast and Ovarian Cancer (PDQ®)
Health Professional Version   Last Modified: 04/24/2009
Table 2. Characteristics of Common Models for Estimating the Likelihood of a BRCA 1/2 Mutation

  Myriad Prevalence Tables [61]  BRCAPRO [64,75]  BOADICEA [64,67]  Tyrer-Cuzick [76] 
AJ = Ashkenazi Jewish; BOADICEA = Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm; BRCAPRO = Berry-Aguilar-Parmigiani Model; 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, >50 Considers exact age at breast and ovarian cancer diagnosis
Does not consider affected relatives Considers prior genetic testing in family (i.e., BRCA1/2 mutation negative relatives) Considers exact age at breast and ovarian cancer diagnosis
Does not consider number of affected relatives Considers oophorectomy status Includes all FDR and SDR with and without cancer Also includes reproductive factors and body mass index to estimate breast cancer risk
Includes AJ ancestry Includes all FDR and SDR with and without cancer Includes AJ ancestry
Very easy to use Includes AJ ancestry
Limitations Simplified view 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
Incorporates only FDR and SDR; may need to change proband to best capture risk Incorporates only FDR and SDR; may need to change proband to best capture risk

References

  1. 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]

  2. 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]

  3. 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]

  4. Katki HA: Incorporating medical interventions into carrier probability estimation for genetic counseling. BMC Med Genet 8: 13, 2007.  [PUBMED Abstract]

  5. 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]


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