Familial colorectal cancer (FCC) is a hereditary form of colorectal cancer that accounts for 15-50% of all colorectal cancers (1,2). FCC patients generally have one or two family members affected with colon polyps or cancer. A mutation (I1307K) in the APC gene has been associated with colorectal c ...
Juvenile polyposis (JP) is a rare dominantly inherited tumor predisposition syndrome, the typical lesion being a benign hamartomatous intestinal polyp with dilated crypts. Solitary juvenile polyps are relatively common in childhood, and appear not to be associated with neoplasia ...
The signaling pathways mediated by the transforming growth factor-β (TGF-β) family of factors are implicated in a wide array of biological processes including cell differentiation and proliferation, determination of cell fate during embryogenesis, cell adhesion and cell death. T ...
While Peutz-Jeghers syndrome (PJS) has been acknowledged as a clinical entity for decades (1,2), the molecular background for the disease has been unraveled only very recently. PJS has two cardinal features: First, many but not all patients display mucocutaneous melanin pigmentation th ...
A vast amount of genome sequencing data has become available over the past few years and methods to facilitate high-throughput analysis of large sets of genes and samples have been developed to localize novel genes related to human cancer. As advanced robotic applications have made it possible ...
Cowden syndrome is a rare dominantly inherited condition with predisposition to benign hamartomatous polyposis of the intestine, as well as malignant tumors of the breast and thyroid, and possibly some other cancer types. Other features include macrocephaly and dysplastic cerebe ...
The molecular analysis of human cancer is complicated by the difficulty in obtaining pure populations of tumor cells to study. One traditional method of obtaining a pure representation has been establishing cancer cell lines from primary tumors. However, this technique is time consumi ...
Most epidemiological studies (1-7) support a protective role of aspirin and nonsteroidal antiinflammatory drugs (NSAIDs) against colorectal cancer. People who (by their report) take aspirin regularly have about a 50% decrease in the incidence (3,4) and mortality (1,2) from colorectal ...
Immunohistochemistry involves the binding of an antibody to a cellular or tissue antigen of interest and then visualization of the bound product by a detection system. With the ever-increasing number of antibodies against cellular epitopes, immunohistochemistry is an extremely u ...
The mucosa of the colon occupies 25% of the intestinal wall, from the muscularis mucosa to the lumen-lining epithelium, and contains a variety of cell types, predominantly B and T lymphocytes, but also monocytes, mast cells, and macrophages (1,2). These cells secrete a variety of cytokines, includ ...
Tumor cell interactions with the local microenvironment influence a range of cellular activities. A ubiquitous and important “;signal”; for tumor cells is the surrounding protein stroma, the extracellular matrix (ECM). This protein network varies in composition and structure thr ...
The microcolony assay originally described by Withers and Elkind in 1970 (1) has been a useful method for investigating the effects of radiation and various other genotoxic and cytotoxic damaging agents on the intestinal epithelial stem cell population and to assess the ability of a variety ...
The recognition of cancer as a genetic disease has changed the approach investigators take to understanding the mechanisms of carcinogenesis. The discovery of oncogenes, and the recognition of the inactivation of tumor suppressor genes, DNA repair enzymes, and of apoptotic pathways h ...
While in situ techniques have been valuable in identifying the presence and localization of cytoplasmic and membrane components in tissue (1), there is often a need to study directly one or more cell types, free from its own microenvironment. For the human colon, isolation techniques to allow di ...
Somatic gene therapy is based on the principle of transferring recombinant genes efficiently into somatic tissues and achieving expression of the gene product in order to replace genetically defective gene functions or alter pathological disease processes. The development of a ge ...
Xenografting of human tumors has been used to produce samples which are enriched for neoplasia and optimal for subsequent molecular analyses. Molecular studies of xenograft tumors generated from both human colon and pancreatic adenocarcinomas have led to the discovery of important ...
Screening for chromosomal changes in solid tumors was long hindered by methodological problems encountered in standard cytogenetic analysis. Comparative genomic hybridization (CGH), a technique that emerged in 1992 (1) has proved to be a powerful tool for molecular cytogenetic an ...
An opportunity to look inside of the individual cell for the direct visualization in situ of “what happened?” is the most wonderful feature offered by fluorescence in situ hybridization (FISH). DNA in situ hybridization is a technique that allows the visualization of defined sequences of nuc ...
Loss of the long arm of chromosome 18 (18q) is one of the most common genetic changes in colorectal cancer. This chapter describes the method to determine chromosome 18q status using microsatellite markers. Specifically, tumor and normal tissue are separated by microdissection of routine f ...
Selective ultraviolet radiation fractionation (SURF) is a simple technique for the isolation of histologically defined microscopic tissue regions (1,2). Very small numbers (100-400) of cells can be rapidly isolated with relatively crude equipment. The isolated cells can be analy ...

