Genetic Disorders of Endocrine Neoplasia
The genetics of endocrine cancers is clearly an area where new scientific discoveries that have occurred in the past few years have already been translated into clinical practice. This volume attempts to provide a state-of-the-art review of some of the most relevant inherited syndromes that share a higher susceptibility to the development of endocrine tumors.
It focuses on familial tumor syndromes for which the primary gene defect has been well characterized or recently identified. An overview of cloning strategies and gene characterization in cancer is combined with detailed discussions of clinical aspects and molecular features of heritable endocrine neoplastic diseases, such as MEN 1 and MEN 2 and Von Hippel-Lindau Disease. Studies on the PTEN gene, the first known phosphatase to lead to cancer when disrupted, are discussed in detail. Also included is the recent identification and partial characterization of one of at least two genes for Carney Complex, PRKARIA.
The authors place special emphasis on testing and screening strategies which now allow a much earlier identification of family members at risk. The challenge for the 21st century will be to develop equal progress in pharmacological prevention and cure based on the knowledge of the function of these susceptibility genes and their targets.
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Acad Sci USA activity allele associated Biol calcitonin cancer genetics Cancer Res Carney complex cDNA cell lines characterized chromosome Clin Endocrinol Metab clinical cloning codon Cowden disease Cowden syndrome deletion detection diagnosis domain Elongin endocrine neoplasia type exon expression FMTC function GDNF genomic germline mutations growth factor hamartoma hemangioblastomas hereditary HIF1 Hippel-Lindau disease Hum Genet Hum Mol Genet human hyperparathyroidism identified inactivation interaction lesions locus malignant mapping Marsh DJ Marx SJ medullary thyroid carcinoma MENIN molecular Mulligan LM multiple endocrine neoplasia muta mutation analysis Nat Genet Natl Acad Sci Oncogene parathyroid Pathol pathways patients Peutz-Jeghers Peutz-Jeghers syndrome phenotype pheochromocytoma phosphatase pituitary polyposis Proc Natl Acad protein PTEN mutation pVHL receptor renal RET mutation RET proto-oncogene screening sequence signalling specific Stratakis studies substrate techniques tion tissue transcription tumor suppressor gene tyrosine kinase ubiquitin VHL gene von Hippel-Lindau disease Zbar