BRCA1 and hypoparathyroidism-retardation-dysmorphism syndrome: Forty-two participants had previously undertaken genetic testing, in which 33 (58.9%) patients carried a BRCA1/2 mutation, 1 with FANCI mutation, 1 with PIK3CA variants, 1 with Lynch symptom, 1 with homologous recombination deficiency (HRD) and the rest were negative.