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9 Cards in this Set
- Front
- Back
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Birt hogg dube |
FLCN gene Classic skin lesions- fibrofolliculomas, perifollicular fibromas, trichodiscomas, angiofibromas, acrochordons Bilatral/multifocal renal carcinoma ( chromophobe, oncocytoma, oncocytic hybrid tumor and rarely clear cell CA of kidney) Multiple bilateral lung cysts with spontaneous pneumothorax |
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Carney complex |
PRKAR1A GENE brown black lentigenes Myxoma of heart, skin, breast Adrenocortical disease Large cell sertoli cell tumors of testes Acromegaly due to GH producing adenomas Nonmedullary thyroid cancer Psammomatous melanocytic schwannoma Epithelioid blue nevus Osteochondromyxoma |
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Constitutional mismatch repair deficiency |
Recessive due to biallelic mutation in mismatch repair genes Risk of cancer in childhood of lynch associated cancers, hematologic malignancies, embryonic tumors Nf1 like feature-length a little macules, skin fold freckling, lisch nodules, tibial psuedoarthrosis |
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Cowden syn |
PTEN mutation Benign skin findings ( trichilemmomas, Acra keratoses, mucocutaneous neuromas, oral papillomas Breast cancer (LR 30-85%) Follicular thyroid cancer (LR 10-38%) Endometrial cancer (LR 5-28%) Colorectal cancer (LR 9%) Melanoma (6%) GI hamartomas Lhermitte duclos disease Macrocephaly Macula pigmentation of glans penis |
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FAP/AFAP |
APC gene Colon polyps, cancer (LR 100%) > 100- FAP 30-100-AFAP Increased risk of duodenal, pancreatic and papillary thyroid ( cribriform morular variant ), hepatoblastoma, medulloblastoma CHRPE, osteomas, dental abnormalities, benign epidermoid cysts, Desmoid tumors. |
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Familial GIST |
Kit, PDGFRA, SDHB, SDHB genes |
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Familial pancreatic cancer |
Most commonly in BRCA2. ALSO IN lynch, peutz-jegher, FAP, hereditary melanoma syn Also mutation in CDKN2A, PALB2, ATM Genes |
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Familial prostate cancer |
Multiple risk AD, AR, XLR |
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Dyskeratoses congenita |
Shortened telomere length due to mutation of TERT, TERC, TINF Leukoplakia Abnormal nails Bone marrow failure- aplastic anemia, MD Increased risk of leukemia Increased risk of cancer of head, neck, anus, genitals |
