Muckle-Wells syndrome is a rare autosomal dominant disease that belongs to a group of hereditary febrile syndromes. It is characterized by recurrent and self-limited episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis since childhood, which are related to exposure to cold temperatures. Lately, progressive sensorineural hearing loss occurs. Amyloidosis is the main complication a...

The panel covers genes associated with hereditary colorectal cancer syndromes, familial pancreatic cancer, hereditary diffuse gastric cancer and gastrointestinal stromal tumors. Also other syndromes associated with increased risk of gastrointestinal cancer are covered. The Hereditary Gastrointestinal Cancer Panel is suited for detecting heritable germline mutations and may not be used for the d...

About 6% of colorectal cancers are caused by genetic mutations associated with hereditary colorectal cancer syndromes. The most common hereditary cancer syndromes nurses are likely to encounter include hereditary nonpolyposis colon cancer or Lynch syndrome, familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MYH polyposis. Current colorectal cancer recommendations for...

N Engl J Med 2006;354:1387-401. Copyright © 2006 Massachusetts Medical Society. The inherited forms of proteinuria comprise a heterogeneous group of rare renal diseases in which glomerular dysfunction and proteinuria are prominent. Despite the rarity of hereditary proteinuria syndromes, genetic, biochemical, and structural studies of these diseases have made important contributions to our knowl...

During the past two decades, several new hereditary renal cancers have been discovered but are not yet widely known. Hereditary renal cancer syndromes can lead to multiple bilateral kidney tumors that occur at a younger age than that at which the nonhereditary renal cancers occur. The aim of our work is to review the features of hereditary renal cancers, the basic principles of genetic relevant...

Background Cryopyrin-associated periodic syndromes (CAPS) are the rare hereditary autoinflammatory diseases. CAPS include three similar conditions are distinguished which lie along a phenotypical continuum with increasing levels of severity: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and CINCA/NOMID. Distinguishing features include cutaneous, neurological, ophth...

Abbreviated title: Adrenal and gonadal hormones in TRAPS Context: Tumor necrosis factor (TNF)-receptor-associated periodic syndrome (TRAPS) is a hereditary fever syndrome which results from mutations in the TNF-receptor superfamily 1A gene (TNFRSF1A). It is Objective: Since adrenal and gonadal hormone cascades are modulated by TNF, this study aimed to investigate specific hormones and enzyme st...

Gastrointestinal cancer is one of the major causes of death worldwide. Hereditary gastrointestinal cancer syndromes constitute about 5-10% of all cancers. About 20-25% of undiagnosed cases have a possible hereditary component, which is not yet established. In the last few decades, the advance in genomics has led to the discovery of multiple cancer predisposition genes in gastrointestinal cancer...