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17 Cards in this Set
- Front
- Back
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Inheritance patterns
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All heritable cancer syndromes are autosomal DOMINANT unless otherwise specified
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Retinoblastoma
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Retinoblastoma
Osteogenic sarcoma |
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MEN I
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Parathyroid
Pituitary Pancreas |
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MEN IIa
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Medullary thyroid
Pheochromocytoma Parathyroid |
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MEN IIb
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Medullary thyroid
Pheochromocytoma Mucosal neuroma |
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Familial adenomatous polyposis (FAP)
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APC tumor suppressor mutation
Hundreds of colon polyps Inevitably cancerous (colectomy by age 25) |
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Gardner's syndrome
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FAP
BONE tumors Soft tissue tumors |
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Turcot's syndrome
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FAP
CNS tumors |
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HNPCC
(Lynch syndrome) |
DNA mismatch repair defect
Endometrial, Ovarian (think krukenberg) GI (any level) Hepatobiliary Urinary tract Brain Skin |
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Peutz-Jegher's syndrome
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Perioral FRECKLES
GI POLYPS (noncancerous) Non-colon cancer (stomach, breast, ovaries) Colon cancer risk is NOT INCREASED |
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NF-1
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Neurofibromas (Schwann/fibroblast/mast cell tumor)
Cafe-au-lait spots Optic gliomas, Lisch nodules (little brown hamartoma) PHEOchromocytoma WILMS tumor Leukemia Macrocephaly Long bone cortical thinning |
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NF-2
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(nonsense mutation, usually)
Bilateral ACOUSTIC NEUROMAS Meningiomas CATARACTS |
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Tuberous sclerosis
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Infantile SPASMS
ANGIOFIBROMA (red papules on face that persist) MR Glial nodules RENAL angiomyolipomas CARDIAC rhabdomyomas |
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Von Hippel-Lindau
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CEREBELLAR hemangioblastomas
RENAL cell carcinoma Liver/kidney CYSTS |
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Xeroderma pigmentosa
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Autosomal RECESSIVE
Defect in UV DNA damage repair Easy SUNBURN, freckling Photophobia Skin cancer risk |
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Albinism
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Autosomal RECESSIVE
Melanin production defect Photophobia, NYSTAGMUS, astigmatism Skin cancer risk |
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Beckwith-Wiedemann (BWS)
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HYPOGLYCEMIA
Macroglossia, macrosomia Midline abdominal defects Ear malformations Cancer (Wilm's, hepatoblastoma, etc) No increased risk of adult cancer |
