Cancer syndrome

There appears to a be a family prostate cancer syndrome and genome-wide scans have identified potential prostate cancer susceptibility loci on chromosomes 1, 2q, 12p, 15q, 16p, and... 

Adenomatous polyposis coli (APC) gene A tumor suppressor gene, acting as a gatekeeper to prevent development of tumors. A familial cancer syndrome called FAP, or familial adenomatous polyposis, is caused by mutations in APC. Mutation of APC also occurs commonly in sporadic cases of colorectal carcinoma. 

Inherited Cancer Syndromes, Tumor Suppressors, and Oncogenes... 

Several inherited cancer syndromes are also known to result from mutations in proto-oncogenes. An example is given by the RET proto-oncogene. Depending on the type of mutation and on which part of the gene is affected, RET mutations can lead to multiple endocrine neoplasia 2A or 2B or familial medullary thyroid carcinoma. These familial cancers are inherited in autosomal dominant fashion. A second example is the CDK4 proto-oncogene, which when mutated can cause familial melanoma. 

Although the study of inherited cancer syndromes has led to the identification of a number of tumor suppressor genes and oncogenes, the inherited cancer syndromes are thought to account for only about 1% of all cancers. However, somatic (as opposed to germline) mutations in many of these tumor suppressors and proto-oncogenes play a key role in the causation of noninher-... 

I Coronary heart disease can be caused by mutations in the LDL receptor (familial hypercholesterolemia), inherited cancer syndromes can result from mutations in ... 

Fearon ER. Human cancer syndromes clues to the origin and nature of cancer. Science (Washington,... 

Mutations in the gene for p53 also cause tumors in more than 90% of human cutaneous squamous cell carcinomas (skin cancers) and about 50% of all other human cancers, p53 is defective. Those very rare individuals who inherit one defective copy of p53 commonly have the Li-Fraumeni cancer syndrome, in which multiple cancers (of the breast, brain, bone, blood, lung, and skin) occur at high frequency and at an early age. The explanation for multiple tumors in this case is the same as that for Rb mutations an individual bom with one defective copy of p53 in every somatic cell is likely to suffer a second p53 mutation in more than one cell in his or her lifetime. 

Autosomal dominant-inherited cancer syndromes provide direct evidence for a genetic component in the origin of cancer. 

Autosomal recessive-inherited cancer syndromes associated with chromosome fragility or decreased DNA repair predisposes affected individuals to cancer. 

Gene Name Familial Cancer Syndrome Protein Function Sites/Types of Commonly Associated Neoplasms... 

A transcription factor gene nm23 may be a suppressor gene for metastasis"" and the cell-cell adhesion molecule E-cadherin may suppress tumor invasion in some kinds of breast cancer. The VHL (van Hippel-Lindau cancer syndrome) suppressor protein is defective in the majority of kidney cancers. It normally binds to the elongin complex, a DNA-binding complex that functions in control of transcription. ... 

Colorectal cancer (CRC) is the second leading cause of cancer death in the United States, with about 5% of cases associated with inherited mutations linked to colon cancer syndromes. The molecular basis of sporadic and inherited CRC involves two distinct pathways, one of chromosomal instability and one associated with microsateUite mstabifity. The original model of chromosome instability proposed in 1990 to explain the pathogenesis of most sporadic tumors (-85%) has been further characterized to reveal a complex chain of events whereby normal colon fining (mucosa) is transformed... 

Li FP. Famflial cancer syndromes and clusters. Curr Prob Cancer 1990 14 73-144. 

Markey K, Axel L, Ahnen D. Basic concepts for genetic testing in common hereditary colorectal cancer syndromes. Cur Gastroenterology Reports 2002 4 404-13. 

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