The gene PAX8 showed a concordant correlation in normal breast from healthy controls and cancer patients, showing upregulation in rare homozygous samples for SNPs that correspond to haplotypes 3 (rs206081) and 4 (rs4942448), both associated with higher expression of BRCA2 (P-value = 0.009 in healthy individuals, P-value = 0.018 in cancer patients; Figure 2A). The gene discussed is BRCA2; the disease is cancer.