ABGC Boards EXAM QUESTIONS AND ANSWERS

When a family has multiple individuals in a family have pancreatic cancer, is this more likely to be due to a mutation in BRCA1 or BRCA2? - Answer-BRCA2 What genes are associated with Noonan syndrome? - Answer-PTPN11, SOS1, KRAS What heart defects can be seen in Noonan syndrome? - Answer-Pulmonary valve stenosis and hypertrophic cardiomyopathy Noonan syndrome follows what inheritance pattern? - Answer-AD What syndrome is associated with dysmorphic facies, short stature, cryptorchidism, renal malformations, scoliosis, lymphedema, hematological disorders? - Answer-Noonan syndrome What genes are associated with HHT? - Answer-ACVRL1, ENG, SMAD4 HHT follows what inheritance pattern? - Answer-AD What percentage of Tuberous Sclerosis is de novo? - Answer-2/3 What major systems are affected by Tuberous Sclerosis? - Answer-Skin, CNS, Renal, Lung, Heart and Eye Prenatal ultrasound suggestive of Tuberous Sclerosis? - Answer-Rhabdomyoma Skin features of Tuberous Sclerosis? - Answer-Facial angiofibroma, shagreen pathc and ungual fibromata Tuberous sclerosis can have a contiguous gene deletion involving what other disorder? - Answer-PKD Three cancers associated with VHL? - Answer-Hemangioblastoma, pheochromocytoma and RCC What does CHARGE stand for? - Answer-Coloboma, Heart anomaly, choanal atresia, mental retardation, genitourinary anomalies and ear anomalies Cri