Notable autosomal dominant syndromes include Hereditary breast-ovarian cancer syndrome (BRCA1/2 mutations), hereditary diffuse gastric cancer (CDH1 mutations), Howel-Evans syndrome (RHBDF2), Li-Fraumeni syndrome (TP53 mutations), Lynch syndrome and constitutional mismatch repair deficiency syndrome (MLH1, MSH2, MSH6, PMS2 mutations), neurofibromatosis type 1/2 (NF1/2 mutations), prostate cancer (HPC1, BRCA1/2), retinoblastoma (RB1), and tuberous sclerosis (TSC1/2). The gene discussed is BRCA1; the disease is palmoplantar keratoderma-esophageal carcinoma syndrome.