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MOLECULAR BASIS OF HEREDITARY COLORECTAL CANCER.

ABSTRACT: Advances in molecular biology have defined the molecular basis for colorectal cancer (CRC). Though only a fraction of CRC has been determined to have a hereditary component, the discovery of genetic alterations in these clinical syndromes has permitted definition of similar discoveries in sporadic CRC. Here we will delineate the molecular basis for the most common of these defined syndromes, including familial adenomatous polyposis, hereditary non-polyposis colon cancer, MUTYH associated polyposis, Juvenile polyposis, Peutz-Jeghers syndrome, and Cowden's syndrome. The newest paradigm with implications for the pathogenesis of sporadic CRC is called the cancer stem cell hypothesis. As this paradigm also implicates aberrations in molecular pathways, a brief discussion of this hypothesis is included.

SUBMITTER: Hughes MR

PROVIDER: S-EPMC3138675 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

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MOLECULAR BASIS OF HEREDITARY COLORECTAL CANCER.

Hughes Matthew R MR Huang Emina H EH

Seminars in colon & rectal surgery 20110601 2

Advances in molecular biology have defined the molecular basis for colorectal cancer (CRC). Though only a fraction of CRC has been determined to have a hereditary component, the discovery of genetic alterations in these clinical syndromes has permitted definition of similar discoveries in sporadic CRC. Here we will delineate the molecular basis for the most common of these defined syndromes, including familial adenomatous polyposis, hereditary non-polyposis colon cancer, MUTYH associated polypos ...[more]

PMID: 21779143

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Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.

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The molecular basis of hereditary enamel defects in humans.

Project description:The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel.

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Role of detection of microsatellite instability in Chinese with hereditary nonpolyposis colorectal cancer or ordinary hereditary colorectal cancer.

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