Karl Shared "Familial Cancer Mutations" - 8 Picmonics
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Familial Cancer Mutations
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
- Characteristics
- Autosomal Dominant
- Defective DNA Mismatch Repair
- 80% Risk of Colon Cancer Development
- Proximal (Right) Colon
- Type II associated with Endometrial, Ovarian and Skin Cancers
- 3-2-1 Rule
- 3 Relatives with Colon Cancer
- Occurs Across 2 Generations
- 1 Relative Diagnosed < 50 Years Old
- Treatment
- Frequent Screening
- Colectomy
3 mins
Neurofibromatosis Type 1
- Pathophysiology
- Autosomal Dominant
- Chromosome 17
- Signs and Symptoms
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
4 mins
Neurofibromatosis Type 2
- Pathophysiology
- Autosomal-Dominant
- Chromosome 22
- Signs and Symptoms
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
2 mins
Wilms' Tumor (Nephroblastoma)
- Cause
- Malignant Renal Tumor
- Assessment
- Abdominal Mass
- Hematuria
- Fever
- Hypertension
- Interventions
- Nephrectomy
- Chemotherapy
- Radiation
- Considerations
- Do Not Palpate Abdomen
- Children Under 5 Years Old
2 mins
Von Hippel-Lindau Disease
- Pathophysiology
- Chromosome 3
- Presentation
- Hemangioblastomas
- Medulla, Retina, Cerebellum
- Cysts
- Kidney, Liver, Pancreas
- Develop Bilateral Renal Carcinomas
- Pheochromocytomas
2 mins
MEN 1 (Multiple Endocrine Neoplasia)
- Pathophysiology
- Autosomal Dominant
- Menin Mutation (Tumor Suppression Gene)
- Chromosome 11
- Signs and Symptoms
- Pancreatic Endocrine Tumors
- Pituitary Tumors
- Parathyroid Adenomas
2 mins
Peutz-Jeghers Syndrome
- Mechanism and Characteristics
- Symptomatic Age: 10-30 Years
- LKB1/STK11 Gene Mutation
- Autosomal Dominant
- Signs and Symptoms
- Benign GI Hamartomatous Polyps
- Mucocutaneous Hyperpigmentation
- Positive Family History
- Increased Risk of Colorectal Carcinoma
1 min
MEN 2A (Multiple Endocrine Neoplasia)
- Pathophysiology
- Autosomal Dominant
- RET Gene
- Signs and Symptoms
- Medullary Thyroid carcinoma
- Calcitonin
- Parathyroid
- Pheochromocytoma
45 secs
