This appears to be a new finding compared to an earlier study of GATA3 mutations in familial breast cancer, where GATA3 mutations were found in 22% (7/32) of patients without BRCA1/1 mutations and not identified in patients with germline BRCA1 or BRCA2 mutations (n = 0/23) [50]. The gene discussed is BRCA1; the disease is breast cancer.