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...

Three subtypes have been described: MEN2A (Sipple syndrome) is the most frequent form, characterized by MTC in 95% of cases, phaeochromocytoma in 50% and parathyroid hperplasia or adenoma in 25%. In familial MTC (FMTC), MTC is the only clinical manifestation. MEN2B (Gorlin syndrome) is the least frequent variant defined by predisposition to MTC and phaechromocytoma and marfanoid habitus, mucosa...

Inheritance Bazex-Dupré-Christol syndrome is an X-linked dominant genodermatosis, with a prevalence below 1/1 000 000. The female to male ratio reaches the expected 2:1, and females appear to be less affected than males. There is intrafamilial and interfamilial phenotypic variability (Lacombe and Taïeb, 1995; Kidd et al., 1996). Most cases are European patients. Oley syndrome (Oley et al., 1992...

Characterised by families with cutaneous malignant melanoma (CMM) and nervous system tumours. Initially described in a family with malignant melanoma and/or cerebral astrocytoma in eight members over three generations. Astroctytomas and cutaneous malignant melanoma have been identified in a number of well defined syndromes such as neurofibromatosis, Turcot’s, Lynch type II cancer, LiFraumeni an...

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...

Other names: Schinzel-Giedion syndrome. Note: The use of the long form of the name, SchinzelGiedion midface retraction syndrome, is preferred to prevent confusion with Schinzel ulnar-mammary syndrome, a completely unrelated and clinically nonoverlapping condition also described by Dr Schinzel. Inheritance: Schinzel-Giedion midface retraction syndrome is presumed to be inherited as autosomal rec...

Other names: Familial hepatic adenomas Note: Liver adenomatosis is a rare disease defined by the presence of multiple adenomas within an otherwise normal hepatic parenchyma. In 2002, frequent bi-allelic inactivation of TCF1 /HNF-1alpha, was identified in hepatocellular adenomas. In 80% of the cases both mutations were of somatic origin. However, in the remaining cases, one heterozygous germline...

BACKGROUND We have previously confirmed the importance of rat chromosome 3 (RNO3) genetic loci on blood pressure elevation, pulse pressure (PP) variability and renal pathology during salt challenge in the stroke-prone spontaneously hypertensive (SHRSP) rat. The aims of this study were to generate a panel of RNO3 congenic sub-strains to genetically dissect the implicated loci and identify positi...

Note Ollier disease was first described by Louis Ollier, a French surgeon in early 1800s. The disorder is characterized by the presence of at least three enchondromas. Ollier disease manifests early in childhood and affects both sexes equally. Lesions are distributed unilaterally. In Ollier disease, enchondromas form in the medulla of mainly long bones and it is now clear that Ollier disease is...