In contrast, the expression of BLM, FEN1, and BRCA2 (direct transcriptional targets of BRCA1 that are negatively regulated) was upregulated in HRD tumors21,22, as was expression of EXO1, NEIL3, and BRIP23. The gene discussed is BRCA1; the disease is hypoparathyroidism-retardation-dysmorphism syndrome.