Disease relevance of Neoplastic Syndromes, Hereditary

• Mutations in the adenomatous polyposis coli (APC) gene cause the hereditary cancer syndrome familial adenomatous polyposis and are implicated in the early stages of sporadic colorectal carcinogenesis [1].
• Recent studies of a relatively rare hereditary cancer syndrome, von Hippel-Lindau (VHL) disease, have shed new light on the molecular pathogenesis of kidney cancer and, perhaps more important, on how mammalian cells sense and respond to changes in oxygen availability [2].
• Studies of the FAMMM syndrome should deal carefully with its natural history, including the patient's lifelong susceptibility to multiply malignant melanomas, and the possibility that cancer of other anatomic sites may be integral components of this hereditary cancer syndrome [3].
• Neurofibromatosis type 1 (NF1) is a hereditary cancer syndrome, characterized by café-au-lait skin spots and multiple neurofibromas [4].

High impact information on Neoplastic Syndromes, Hereditary

• von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome that is characterized by the development of multiple vascular tumors and is caused by inactivation of the von Hippel-Lindau protein (pVHL) [5].
• PURPOSE: Great interest in predictive testing for hereditary cancer syndromes has been reported [6].
• von Hippel-Lindau disease is a hereditary cancer syndrome [7].
• MEN1 and MEN2 are hereditary cancer syndromes [8].
• Together with observations that tumours in the hereditary cancer syndromes HNPCC and FAP occur predominantly in the right and left colon, respectively, the existence of 2 categories of CRC based on site of origin in the large bowel was proposed more than a decade ago [9].

Biological context of Neoplastic Syndromes, Hereditary

• Clearly, this authentication of the role of genetics was not solely dependent on molecular genetic studies, since hereditary cancer syndromes such as familial adenomatous polyposis (FAP) had been known for at least 100 years, but molecular advances are clarifying and refining clinical impressions [10].

Anatomical context of Neoplastic Syndromes, Hereditary

• Multiple endocrine neoplasia-like syndrome (MENX) is a hereditary cancer syndrome in the rat characterized by inborn cataract and multiple tumors affecting the neuroendocrine system developed within the first year of life [11].

Gene context of Neoplastic Syndromes, Hereditary

• The clearest example of genetic activation is seen in the hereditary cancer syndrome von Hippel-Lindau (VHL) disease [12].
• None of the patients reported here had physical stigmata of Werner syndrome or a family history consistent with a hereditary cancer syndrome [13].
• Due to the rapid developments in molecular genetics in HNPCC, it seems very likely that HNPCC will be the first common hereditary cancer syndrome, which can be identified by simple blood DNA tests [14].
• Hereditary cancer syndrome: Part 1.--Clinical and educational issues [15].

References