BRCAPRO model undervalues BRCA1/2 mutation risk

According to a new study published in scientific Journal of Clinical Oncology suggests that the use of the BRCAPRO model for evaluation of the probability of having a germline BRCA1/BRCA2 mutation can be based on age, ethnicity, and the family history. It may underestimate the real risk of mutations. The researchers calculated the BRCAPRO scores for 589 patients with the ovarian cancer in reference to the genetic counseling at three different institutions. The BRCAPRO and predictions were then compared with the observed mutations. The researchers further found out that 31 percent of the patients with the ovarian cancer tested positive for the BRCA1 or BRCA2 mutation. The more mutations are actually observed than the expected with the BRCAPRO scores less than 40 percent. Authors express, “This study demonstrates that assessment of family history by a validated model cannot effectively target testing to a high-risk ovarian cancer patient population, which strongly supports the recommendation to offer BRCA1/BRCA2 genetic testing to all patients with high-grade serous ovarian cancer regardless of family history.”