Among the 43 RMS patients assessed, they reported germline mutations in three individuals: two in TP53 (Li–Fraumeni Syndrome) and one in BRCA2. BRCA2 belongs to the Fanconi anemia family of genes and is well-known for its association with adult-onset cancer, including breast and ovarian cancer. The gene discussed is BRCA2; the disease is Fanconi anemia.