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Cancer Genetics UAMS

Cancer Genetics for Genetic Counselors -2nd Test

De novo rate of NF1 50%
Characteristics of NF1 Optic gliomas, Rhabdomyosarcoma, Pheochromocytomas, Brain tumors, Juvenile chronic myelogenous leukemia, Macrocephaly, Lisch nodules, epilepsy, MR
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
De novo rate of NF2 50%
Clinical features of NF2 Vestibular Schwannomas, meningiomas, spinal tumors, skin tumors, cafe au lait patch, cataracts, ependymoma, astrocytoma, optic sheath, Dizziness, deafness, meningiomas.
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.
De novo rate of TS 70%
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,
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.
De novo rate in VHL 1 - 3%
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
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.
Nevoid Basal Cell Carcinoma syndrome - Gorlin de novo rate: 20-30%.
Major criteria for NBCCS Basal cell cancers, Palmar Pits, jaw cysts, calcification of falx.
Minor criteria for NBCCS Bifid ribs/vertebrae. Macrocephaly, Cardiac or ovarian fibroma, medulloblastoma, lymphomesenteric or pleural cysts, Cleft lip/palate, polydactyly, eye anomalies.
Clinical features of Werner syndrome Premature aging, short stature, cataracts, atherosclerotic disease, osteoporosis, scleroderma-like skin, thin, gray hair, adult onset diabetes.
Werner syndrome mode of inheritance Autosomal Recessive
Associated neoplasms of Werner syndrome Osteosarcoma, sarcoma, Melanoma, Thyroid cancer (follicular), Hematologic malignancies, Benign meningiomas.
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
MEN1 de novo rate: 10%
What is the classic triad? Parathyroid 90%, pituitary 10-60%, pancreas (gastro-entero-pancreatic tract)40%
Major cancer risks in MEN1 Duodenum, pancreas, lungs and thymus.
Males have an increased cancer risk in MEN1 for? Thymus cancer, especially if they smoke.
Females have an increased cancer risk in MEN1 for? Bronchial
MEN1 interesting findings: Hyperparathyroidism, Hypercalcemia, Prolactinoma, Facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, leiomyomas.
Sporadic MTC Unifocal, Later age of onset, C-cell hyperplasia is rare or absent, No family history, No associated endocrinopathies
Hereditary MTC Multifocal, early age of onset, C-Cell hyperplasia present, family history in some cases, Associated MEN2A and B endocrinopathies.
MEN2A clinical disease characteristics Medullary thyroid carcinoma 95%-100% - bilateral, Pheochromocytoma 50%, Hyperparathyroidism 15%-30%.
MEN2B clinical disease characteristics Early onset MTC, Pheochromocytomas, Mucosal neuromas, ganglioneuromatosis, Marfanoid phenotype, Megacolon.
Familial Medullary Thyroid Carcinoma characteristics 4 or more members with MTC, NO pheos or parathyroid disease.
RET Proto-Oncogenes and MEN2B Missense mutation in exon16 found in 95% of cases.
MEN2B de novo rate 50% of the time.
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.
Interesting tid bit on Herediatary Paraganglioma Imprinting effects from Fathers not mothers.
Hyperparathyroidism Jaw Tumor Syndrome (HPT-JT) Parathyroid adenoma or carcinoma, Ossifiying fibroma of mandible or maxilla, Renal cyts, adenomas, carcinomas. PARATHYROID CARCINOMAS
Hereditary Paraganglioma carotid body tumors and glomus tumors. Pheos.
Risk Factors for Renal Cancer Cigarettes, Males 2 to 1, Analgesic, Hypertension, Pre-existing Kidney Disease, Family Hx of renal cancer. Obesity.
Hereditary Papillary renal Cell Carcinoma Proto-Oncogene c-MET
Birt-Hogg-Dube syndrome AD. Triad: fibrofolliculomas trichodiscomas and acrochordons, multiple lung cysts, renal cell carcinomas (chromophobe and oncocytomas)
Wilms tuumor Denys-Drash, WAGR, Beckwith-Wiedemann, Simpson-Golabi-Behmel, Familial Wilms.
Denys-Drash syndrome Male pseudohermaphroditism, Wilms tumor, Progressive renal failure
WAGR stands for? Wilms tumor, Aniridia, Genitourinary defects, Retardation
Beckwith-Wiedemann syndrome characteristics Macroglossia, Organomegaly, Neonatal hypoglycemia, Ear creases, embryonal tumors, Hemihypertrophy.
Simpson-Golabi-Behmel syndrome method of inheritance X-linked
Simpson-Golabi-Behmel syndrome characteristics Wilms tumor, Hepatocellular carcinoma, Neuroblastoma, Testicular Gonadoblastoma.
Created by: btkosewski