zhiangtext - Human Genetics HMG 733 RET Oncogene One Gene...

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1 Human Genetics HMG 733 RET Oncogene Sissy M. Jhiang, PhD, jhiang.1@osu.edu One Gene for Five Diseases Germline Mutation MEN2A, MEN2B, and FMTC Hirschsprung’s disease Tumor Mutation Papillary thyroid carcinoma Clinical Subtypes of MEN-2 Subtype MTC Pheo PTH Others MEN 2A MEN 2B FMTC >90% 10-50% 10-20% most common form of MEN-2 >90% >90% 10-50% rare earlier onset, with mucosal neuromas None None late onset indolent course Inheritance of MEN2 Autosomal dominant High penetrance Variable clinical presentation Preclinical Screening Biochemical testing Genetic linkage analysis Direct mutation analysis Plasma Calcitonin Stimulation Test for MTC Repetitive testing Inconclusive results
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2 RET Mutation Analysis for MEN2 Blood drawing Leukocyte isolation DNA extraction Polymerase chain reaction Nucleotide sequencing or Restriction digestion analysis Clinical Significance of RET Mutations in MEN-2 Predictive testing
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zhiangtext - Human Genetics HMG 733 RET Oncogene One Gene...

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