BREVAGen evaluates 7 breast cancer-associated SNPs identified in genome-wide association studies (GWAS). Risk is calculated by multiplying the product of the individual SNP risks by the Gail model risk. BREVAGen has been evaluated for use in Caucasian women of European descent age 35 years and older. According to the BREVAGen website, “suitable candidates” for testing include women with a Gail lifetime risk of 15% or greater; with high lifetime estrogen exposure (e.g., early menarche and late menopause); or with relatives diagnosed with breast cancer. BREVAGen is not suitable for women with previous diagnoses of lobular carcinoma in situ, ductal carcinoma in situ, or breast cancer, since the Gail model cannot calculate breast cancer risk accurately for such women, or for women with an extensive family history of breast and ovarian cancer.
BREVAgen was validated only in comparison to Gail score. Being that the Gail score is the least sensitive scoring tool available and that it is widely considered inadequate, it is hard to have confidence in the validation process. In addition, the risk calculation that depends on multiplying SNP risks by Gail raises its own questions of accuracy. Finally, there is no prospective evidence that BREVAgen produces clinical evidence.
Darabi H, Czene K, Zhao W et al. Breast cancer risk prediction and individualised screening based on common genetic variation and breast density measurement. Breast Cancer Res 2012; 14(1):R25.
Armstrong K, Handorf EA, Chen J et al. Breast cancer risk prediction and mammography biopsy decisions: a model-based study. Am J Prev Med 2013; 44(1):15-22.
Mealiffe ME, Stokowski RP, Rhees BK et al. Assessment of clinical validity of a breast cancer risk model combining genetic and clinical information. J Natl Cancer Inst 2010; 102(21):1618-27.
Zheng W, Wen W, Gao YT et al. Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women. J Natl Cancer Inst 2010; 102(13):972-81.
Campa D, Kaaks R, Le Marchand L et al. Interactions between genetic variants and breast cancer risk factors in the Breast and Prostate Cancer Cohort Consortium. J Natl Cancer Inst 2011.
Wacholder S, Hartge P, Prentice R et al. Performance of common genetic variants in breast-cancer risk models. N Engl J Med 2010; 362(11):986-93.
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