Cancer Prone Disease Section
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چکیده
Inheritance MAS is not inherited. It is a sporadic genetic disorder, caused by a mutation in the GNAS gene encoding the alpha subunit of the stimulatory G protein (GSalpha), cyclic AMP protein kinase dependent cellular signaling pathway involving G protein coupled receptors. An arginine or occasionally serine, leucine or glycine to histidine transposition at residue 201 attenuates GTpase activity. This results in constitutive activation of adenylyl cyclase. The somatic mutation occurs in early embryogenesis, resulting in widespread tissue distribution of abnormalities. The post zygotic mutation is responsible for the mosaic pattern of tissue distribution and the extreme variability of clinical changes, varying from multi system disease to almost unrecognized disorders with single organ involvement. Increased adenylate cyclase activity in bone from clinical fibrous dysplastic lesions is caused by expression of Cfos proto-oncogene in bone. Recent identification of increased fibroblast growth factor (FGF23) activity in fibrous dysplastic lesions has linked the bony abnormalities to a recognized marker of bone metabolism.
منابع مشابه
Cancer Prone Disease Section
Alias Multiple cutaneous and uterine leiomyomatosis (MCUL) Hereditary leiomyomatosis and renal cell cancer (HLRCC) Note Multiple cutaneous leiomyomatosis (MCUL) is characterized by multiple leiomyomas of the skin and uterus. When associated with renal cell cancer, this syndrome is referred to as hereditary leiomyomatosis and renal cell cancer (HLRCC). Inheritance Autosomal dominant with incompl...
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The definition of hereditary prostate cancer (HPC) is based on the family history (pedigree). The suggested criteria include 1) nuclear family with three (or more) cases of prostate cancer, 2) prostate cancer in three successive generations, or 3) at least two men diagnosed with the disease before the age of 55 years. Familial aggregation of cases that don't fulfill the HPC criteria are defined...
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Stiff-person syndrome is a rare neurological disorder characterized by stiffness of skeletal muscles with superimposed spasms. The syndrome is a putative autoimmune disease occurring as an idiopathic or paraneoplastic condition. It is often associated with antibodies to glutamic acid decarboxylase (GAD) or, less commonly, to the 128 kD synaptic protein later amphiphysin (AMPH) and few other aut...
متن کاملCancer Prone Disease Section
Alias: Familial pancreatic cancer Inheritance It has been estimated that as many as 10% of pancreatic cancers have a hereditary basis; five genetic syndromes have been identified that are associated with the familial aggregation of pancreatic cancer; these include: The second breast cancer syndrome (BRCA2), the familial atypical multiple mole melanoma (FAMMM), the Peutz-Jeghers Syndrome, the he...
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