Cancer Genetics for Genetic Counselors -2nd Test
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| De novo rate of NF1 | 50%
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| Characteristics of NF1 | Optic gliomas, Rhabdomyosarcoma, Pheochromocytomas, Brain tumors, Juvenile chronic myelogenous leukemia, Macrocephaly, Lisch nodules, epilepsy, MR
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| Diagnostic criteria of NF1 | 6 or more cafe au lait spots - different sizes >5mm and >15mm
2 or more neurofibromas or 1 or more plexiform neurofibromas
Axillary or inguinal freckling
Optic Glioma
2 or more Lisch Nodules
A distict bony lesion
1st degree relative with NF1
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| De novo rate of NF2 | 50%
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| Clinical features of NF2 | Vestibular Schwannomas, meningiomas, spinal tumors, skin tumors, cafe au lait patch, cataracts, ependymoma, astrocytoma, optic sheath, Dizziness, deafness, meningiomas.
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| Diagnostic criteria of NF2 | Bilateral 8th cranial nerve mass, 1st degree relative with NF2 and unilateral 8th cranial nerve mass or any 2 of the following: Neurofibroma, meningioma, glioma, schwannomak, Juvenile posterior subcapsular lenticular opacity.
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| De novo rate of TS | 70%
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| Major Characteristics of TS | Angiofibromas or forehead plaque, Ungual or periungual fibromas, >3 hypomelanotic macules (ash leaf), Shagreen patch, Multiple retinal nodular hamartomas, Cortical tuber, subependymal nodule or giant cell astrocytoma, Cardiac rhabdomyoma,
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| Minor Characteristics of TS | Dental pits, Hamartomatous rectal polyps, bone cysts, Cerebral white matter migration lines, gingival fibromas, Nonrenal hamartomas, Retinal achromic patch, "confetti" skin lesions, Multiple renal cysts.
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| De novo rate in VHL | 1 - 3%
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| Clinical features of VHL | Clear cell RCC, retinal angioma, cerebellar and spinal cord hemangioblastoma, pheochromocytoma, pancreatic cysts, islet cell/neuroendocrine tumors, Epididymal cystadenoma, endolymphatic sac tumor
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| Diagnostic criteria of VHL - One of the following | CNS and Retnal hemangioblastomas. And at least one of the following; multiple renal, pancreatic or hepatic cysts, pheos, renal cell carcinoma. Or 1 or more relatives with VHL and a proband with above list.
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| Nevoid Basal Cell Carcinoma syndrome - Gorlin de novo rate: | 20-30%.
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| Major criteria for NBCCS | Basal cell cancers, Palmar Pits, jaw cysts, calcification of falx.
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| Minor criteria for NBCCS | Bifid ribs/vertebrae. Macrocephaly, Cardiac or ovarian fibroma, medulloblastoma, lymphomesenteric or pleural cysts, Cleft lip/palate, polydactyly, eye anomalies.
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| Clinical features of Werner syndrome | Premature aging, short stature, cataracts, atherosclerotic disease, osteoporosis, scleroderma-like skin, thin, gray hair, adult onset diabetes.
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| Werner syndrome mode of inheritance | Autosomal Recessive
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| Associated neoplasms of Werner syndrome | Osteosarcoma, sarcoma, Melanoma, Thyroid cancer (follicular), Hematologic malignancies, Benign meningiomas.
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| Blue Rubber Bleb Nevus Syndrome characteristics | Characteristic skin hemangiomas, hemangiomas in the eye, uterus and other organs, Can cause bleeding, breathing problems and impaired vision. Cerebellar hemangiomas
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| MEN1 de novo rate: | 10%
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| What is the classic triad? | Parathyroid 90%, pituitary 10-60%, pancreas (gastro-entero-pancreatic tract)40%
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| Major cancer risks in MEN1 | Duodenum, pancreas, lungs and thymus.
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| Males have an increased cancer risk in MEN1 for? | Thymus cancer, especially if they smoke.
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| Females have an increased cancer risk in MEN1 for? | Bronchial
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| MEN1 interesting findings: | Hyperparathyroidism, Hypercalcemia, Prolactinoma, Facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, leiomyomas.
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| Sporadic MTC | Unifocal, Later age of onset, C-cell hyperplasia is rare or absent, No family history, No associated endocrinopathies
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| Hereditary MTC | Multifocal, early age of onset, C-Cell hyperplasia present, family history in some cases, Associated MEN2A and B endocrinopathies.
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| MEN2A clinical disease characteristics | Medullary thyroid carcinoma 95%-100% - bilateral, Pheochromocytoma 50%, Hyperparathyroidism 15%-30%.
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| MEN2B clinical disease characteristics | Early onset MTC, Pheochromocytomas, Mucosal neuromas, ganglioneuromatosis, Marfanoid phenotype, Megacolon.
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| Familial Medullary Thyroid Carcinoma characteristics | 4 or more members with MTC, NO pheos or parathyroid disease.
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| RET Proto-Oncogenes and MEN2B | Missense mutation in exon16 found in 95% of cases.
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| MEN2B de novo rate | 50% of the time.
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| Carney Complex clinical features: 2 of 12 needed | Spooty skin pigmentation, Myxoma, Cardiac myxoma, Breast myxomatosis, Cushing syndrome, Acromegaly, Testicular neoplasms, Thyroidneoplams, Melanotic Schwannoma, Blue nevi, Breast ductal adenomas, Osteochondromyxoma.
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| Interesting tid bit on Herediatary Paraganglioma | Imprinting effects from Fathers not mothers.
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| Hyperparathyroidism Jaw Tumor Syndrome (HPT-JT) | Parathyroid adenoma or carcinoma, Ossifiying fibroma of mandible or maxilla, Renal cyts, adenomas, carcinomas. PARATHYROID CARCINOMAS
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| Hereditary Paraganglioma | carotid body tumors and glomus tumors. Pheos.
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| Risk Factors for Renal Cancer | Cigarettes, Males 2 to 1, Analgesic, Hypertension, Pre-existing Kidney Disease, Family Hx of renal cancer. Obesity.
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| Hereditary Papillary renal Cell Carcinoma | Proto-Oncogene c-MET
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| Birt-Hogg-Dube syndrome | AD. Triad: fibrofolliculomas trichodiscomas and acrochordons, multiple lung cysts, renal cell carcinomas (chromophobe and oncocytomas)
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| Wilms tuumor | Denys-Drash, WAGR, Beckwith-Wiedemann, Simpson-Golabi-Behmel, Familial Wilms.
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| Denys-Drash syndrome | Male pseudohermaphroditism, Wilms tumor, Progressive renal failure
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| WAGR stands for? | Wilms tumor, Aniridia, Genitourinary defects, Retardation
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| Beckwith-Wiedemann syndrome characteristics | Macroglossia, Organomegaly, Neonatal hypoglycemia, Ear creases, embryonal tumors, Hemihypertrophy.
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| Simpson-Golabi-Behmel syndrome method of inheritance | X-linked
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| Simpson-Golabi-Behmel syndrome characteristics | Wilms tumor, Hepatocellular carcinoma, Neuroblastoma, Testicular Gonadoblastoma.
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