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Recent years, the genetic test was used for cancer screening. BRCA ½ are two gen

ID: 3055740 • Letter: R

Question

Recent years, the genetic test was used for cancer screening.   BRCA ½ are two genes related to breast cancer. When the BRCA ½ mutation testing is positive, the women will be in higher risk of developing breast cancer over the lifetime. According to European Molecular Genetics Quality Network*, that 97.1% of women with BRCA ½ mutation and 2.7% of women without BRCA ½ mutation are tested with positive results in genetic laboratories test. From the literature, the prevalence of BRCA ½ mutation among women in the general population is 0.2%*.

What are the sensitivity and the specificity of the genetic laboratories test as a screening test for detecting BRCA ½ mutation

Explanation / Answer

from above sensitivity =P(tested positive|have BRCA ½ mutation) =0.971

specificity =P(tested negative|did not have  BRCA ½ mutation) =1-0.027 =0.973