Cancer Prone Disease Section
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چکیده
Other names Familial platelet disorder with predisposition to myeloid malignancy FPD/AML Inheritance Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is an autosomal dominant disorder caused by germline heterozygous mutations in the hematopoietic transcription factor RUNX1. Thirty-six pedigrees have been reported to date. Although rare, the frequency of this disorder has been probably underestimated and it is now being increasingly recognized due to enhanced awareness. FPD/AML represents one of the few identified genetic disorders underlying pure familial myelodysplastic syndrome (MDS)/AML cases and represents a useful model to unravel the role of RUNX1 in leukemogenesis.
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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...
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