Clinical and Molecular Aspects of Multiple Endocrine Neoplasia Type 1

Chandrasekharappa, SC; Teh, BT

doi:10.1159/000061047

Cited by 12 publications

(11 citation statements)

References 84 publications

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“…The MEN1 gene is localized on chromosome 11q13 and consists of 10 exons spanning approximately 9 kb of genomic sequence and encoding a 68-kDa protein of 610 amino acids, named menin [12,15,57] (Table 1). Menin is a cell cycle-regulated nuclear protein.…”

Section: Introductionmentioning

confidence: 99%

“…In approximately 10% of patients, MEN1 germline mutations arise de novo without any family history [8,12,15] (Table 1). The MEN1 germline mutations are found spread over the entire exonic and intronic sequences and are not clustered in hotspots.…”

Section: Introductionmentioning

confidence: 99%

“…Approximately 60% are truncating mutations, either frameshift (~40%) or nonsense (~20%) mutations; 20% are missense mutations; 10% are in-frame deletions or insertions, and about 10% are intronic and splice-site mutations. Large germline deletions encompassing the whole MEN1 locus have also been detected [12,14,15].…”

Section: Introductionmentioning

confidence: 99%

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Hereditary neuroendocrine tumors of the gastroenteropancreatic system

et al. 2007

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Approximately 5-10% of neuroendocrine tumors (NETs) of the gastroenteropancreatic system (GEP) have a hereditary background. The known inherited syndromes include multiple endocrine neoplasia type 1, neurofibromatosis type 1, von Hippel-Lindau disease, and the tuberous sclerosis complex. This review discusses for each of these syndromes the: (1) involved genes and specific types of mutations, (2) disease prevalence and penetrance, (3) affected neuroendocrine tissues and related clinical syndromes, (4) special morphological features of NETs and their putative precursor lesions. In addition, GEP-NETs clustering in individual families or associated with other malignancies without known genetic background are discussed.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Hereditary neuroendocrine tumors of the gastroenteropancreatic system

et al. 2007

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“…Menin functions as a tumor suppressor protein that is mutated in patients with an inherited syndrome called Multiple Endocrine Neoplasia 1 (MEN1) Chandrasekharappa and Teh, 2001;Larsson et al, 1988). To date, more than 400 nonsense and frame-shift mutations have been reported in MEN1 patients often developing parathyroid, pancreatic or pituitary tumors after the loss of the wild-type MEN1 allele (Dong et al, 1997;Larsson et al, 1988;Lemmens et al, 1997;Thakker, 2001).…”

Section: Men1 Tumorigenesismentioning

confidence: 99%

Biochemistry of the Mixed Lineage Leukemia 1 (MLL1) Protein and Targeted Therapies for Associated Leukemia

Dharmarajan¹,

Cosgrove²

2011

Acute Leukemia - The Scientist's Perspective and Challenge

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“…For some of these genes the answer is unequivocally yes: both VHL and menin act as classic tumor suppressor genes. 23,24 VHL may also be categorized as a gatekeeper. 20 For other endocrine tumor genes, a different term has been proposed, namely landscapers.…”

Section: Endocrine Tumor Suppressor Genes: the Concept Of Conductorsmentioning

confidence: 99%

Applications of genomic medicine in endocrinology and post-genomic endocrine research

Stratakis¹

2005

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In the mid 1980s, two advances revolutionized Medicine in a way that is comparable only to some of the most important events in the approximately 3,000 years of its history. The first was the introduction of the concept of positional cloning, i.e. the idea that one can identify genes for human disease though knowing nothing or very little about their function. The second was the discovery of the method of polymerase chain reaction (PCR) which made DNA easier to work with for all biomedical researchers and clinicians. Fresh in the history of Endocrinology were the great discoveries of neuroendocrinology, and even more contemporary and potent, the influence of the then emerging field of molecular endocrinology. Cancer medicine and traditional human genetics were the fields that benefited most from the first applications of the new genomic concepts and technologies. Almost two decades later, and after the first successful applications of positional cloning in Endocrine Genetics with the identification of RET, menin, PTEN and PRKAR1A in the various forms of multiple endocrine tumor syndromes, and a number of other genes in developmental diseases affecting the pituitary, thyroid, parathyroid, pancreas, adrenal and gonadal glands, endocrinology has made a comeback to the forefront of genomically-influenced as well as post-genomic Medicine. This report, using the example of endocrine tumor genetics, presents the process and some of the accomplishments of positional cloning and discusses the influence of endocrinology on contemporary translational research. The author suggests that some of the most traditional endocrine concepts, established in the previous two centuries, could help us understand the complex pathways recently unraveled in cancer genetics and, consequently, other fields. It is suggested that Endocrine genes that control cellular signaling act as conductors since they regulate differentiation, growth and proliferation. Their complex function and resultant transcriptomes are now being investigated by post-genomic Medicine. In cancer research, endocrine genes defy classic definitions of tumor suppressors and oncogenes and regulate gatekeepers, caretakers, and landscapers. In the post-genomic, translational Medicine, Endocrinology once again could help us to understand cellular regulation and pathophysiology and to design new treatments.

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Clinical and Molecular Aspects of Multiple Endocrine Neoplasia Type 1

Cited by 12 publications

References 84 publications

Hereditary neuroendocrine tumors of the gastroenteropancreatic system

Hereditary neuroendocrine tumors of the gastroenteropancreatic system

Biochemistry of the Mixed Lineage Leukemia 1 (MLL1) Protein and Targeted Therapies for Associated Leukemia

Applications of genomic medicine in endocrinology and post-genomic endocrine research

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