[A clinic for cancer genetic counseling].
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Denmark↗
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Advances in breast cancer genetics.
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Breast Neoplasms↗
Cancer: Genetics and the Environment. Proceedings of a conference. New York, New York, USA. November 15-16, 1996.
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Carcinogens↗
Applications of tissue microdissection in cancer genetics.
A major obstacle to apply molecular biologic techniques effectively to the somatic genetic analysis of neoplastic tissue is the presence of abundant nonneoplastic elements in the analyzed specimen. These nonneoplastic elements, including reactive fibrous cells, vascular cells, and a variety of infiltrating white blood cells, may mask genetic alterations that otherwise would be easily detectable if the neoplastic cells were procured selectively. We have developed a microdissection technique which allows to selectively procure and genetically analyze small populations of neoplastic cells from the glass slide. In this report, we describe the microdissection technique and genetic analysis of archival frozen and paraffin-embedded tissue in general. Then, we review some implications of this approach of genetic analysis for mapping and cloning of new genes, identification of premalignant lesions, and differential analysis of different histologic components within the same tumor.
Barrett Esophagus↗
Aneuploidy-cancer predisposition syndromes: a new link between the mitotic spindle checkpoint and cancer.
Genetic cancer predisposition syndromes have been crucial to the identification of genes and pathways involved in carcinogenesis. Constitutional gene mutations segregating with distinctive cancer phenotypes provide unequivocal evidence of a gene's causal role in cancer. This type of evidence has been central in proving that oncogenes and tumor suppressor genes can cause human cancers, but has been lacking for genes implicated in generating aneuploidy. However, recently we identified mutations in the mitotic checkpoint gene BUB1B in an autosomal recessive condition characterized by mosaic aneuploidies and childhood cancers. This finding strongly suggests that aneuploidy is causally related to cancer development.
Aneuploidy↗
Principles of genetics and cancer.
OBJECTIVES: To discuss basic principles of inheritance as they relate to cancer genetics. DATA SOURCES: Current research and professional literature that are necessary to understand genetics and cancer. CONCLUSIONS: Studies of the human genome are identifying the location and sequence of genes that influence how cells grow and function, and relationships between genetic information and cancer development. IMPLICATIONS FOR NURSING PRACTICE: Understanding basic genetic information is an essential foundation of current and future oncology nursing practice.
Chromosomes↗
[Genetics of prostate cancer].
Genetic epidemiology studies have suggested the responsibility of genetic factors in prostate cancer susceptibility. The development of genomic and high throughput genetic studies has allowed the recent identification or localization of such susceptibility genes. Furthermore, these technologies have contributed to outstanding advances in somatic genetics of prostate cancer. The goal of the present review is to disclose contributing technologies to and results of genetic studies of prostate cancer.
Chromosome Aberrations↗
[Genetic epidemiology and cancer].
Genetic epidemiology focuses on the familial and, in particular, genetic, determinants of disease and the joint effects of genes and environmental factors. Thus, genetic epidemiology aims at quantifying the risk of disease, cancer included, associated with genetic variation within a given population. In spite of the fact that most cases of cancer are initiated based on environmental exposures accumulated during a life-time, the carcinogenetic process itself is governed by a set of specified and unspecified genetic malfunctions, making genetic epidemiology a valuable methodological platform in cancer research. Details are given on known and suspected causes of cancer, including presumable gene-gene and gene-environment interactions.
Chromosome Mapping↗
Clinical applications of genetic rearrangements in cancer.
Genetic aberrations in cancer cells can be of immediate relevance to the patient. They enable definitive diagnoses to be reached and sub-classification of certain tumour types into good or bad prognostic groups, information which can influence therapy. These aberrations can also be used as tumour markers for monitoring the response to therapy. Major technological advances in the last few years have facilitated these applications in the routine clinical setting and encouraged searches for new genetic markers. As the genes directly affected are identified and their roles in tumorigenesis elucidated, they are likely to provide novel targets for therapeutic intervention.
Gene Rearrangement↗
Genetic immunotherapy for cancer.
Genetic immunization refers to treatment strategies where gene transfer methods are used to generate immune responses against cancer. Our growing knowledge of the mechanisms regulating the initiation and maintenance of cytotoxic immune responses has provided the rationale for the design of several genetic immunization strategies. Tumor cells have been gene-modified to express immune stimulatory genes and are then administered as tumor vaccines, in an attempt to overcome tumor cell ignorance by the immune system. With the description of well-characterized tumor antigens, multiple strategies have been proposed mainly aimed at optimal tumor antigen presentation by antigen-presenting cells (APC). Among APC, the dendritic cells have been recognized as the most powerful cells in this class, and have become the target for introducing tumor antigen genes to initiate antitumor immune responses. The detailed knowledge of how the immune system can be activated to specifically recognize tumor antigens, and the mechanisms involved in the control of this immune response, provide the basis for modern genetic immunization strategies for cancer treatment.
Antigens, Neoplasm↗
Use of biomarkers to elucidate genetic susceptibility to cancer.
Genetic variations have generally been accepted to be the major mechanism for the differences observed in susceptibility to cancer. However, extensive investigations on genotype-disease associations have not produced consistent results. The inconsistency may be caused by many factors, such as improper study design, insufficient sample size, complexity of the traits under investigation, heterogeneity of the study subjects, incorrect assumptions about the underlying genetic architecture, misclassification of the disease, improper selection of potential alleles, and overinterpretation of the data. Besides these "traditional" factors, a recent problem is that the function of many variant genotypes is unknown, especially with regard to polymorphic DNA repair genes. Therefore, in addition to the genotype-disease relationship, it may be prudent to step back and investigate the fundamental role of genetic variation in the development of cancer. The latter studies may focus on understanding the genotype-exposure interactions and evaluating genotype-health risk associations. This review will emphasize the use of relevant biomarkers and polymorphic DNA repair genes for investigations. These data will be useful for a better understanding of the complexity of disease causation and development, developing new models for human disease, and identifying pathways for prevention of cancer.
Carcinogens, Environmental↗
Genetic epidemiology of colorectal cancer.
Genetic epidemiological methods have played an integral role in the characterisation of the genetic susceptibilities to colorectal cancer. Classic epidemiological approaches, such as case-control and prospective cohort studies, that utilise family history information have laid the foundation for the more specialised family-based genetic methods, segregation analysis and linkage analysis. The genetic epidemiology of colorectal cancer can be characterised by several themes: the consistently increased risk of colorectal cancer in first-degree relatives of patients with colorectal cancer; genetic predisposition to some, if not the majority of colorectal neoplasms; and genetic heterogeneity of the inherited colorectal cancer syndromes. With the rapid development of molecular genetic techniques, new opportunities for further research include studies to estimate the proportion of colorectal cancer that is accounted for by genetic susceptibility, the number of loci that may be involved, and most importantly, gene-environment interaction studies, not only of the inherited syndromes, but of common colorectal cancer.
Case-Control Studies↗
[Somatic genetics of breast cancer].
Genetic events involved in breast tumor formation are described. Abnormalities known point to determine the genes which participate in tumorigenesis. Mechanisms involved should be oncogene activation, tumor suppressor gene inactivation, abnormal protein expression. Multiple genetic alterations are probably necessary for a normal tissue to become malignant. Most of these genetic alterations seem to be somatic. Only 1 or 2 steps can be inherited and in familial cancer only (5% of breast cancers). Characterization of altered genes at somatic level during carcinogenesis will allow progress in the understanding of the molecular mechanisms involved and in the use these genetic markers in clinical oncology.
Apoptosis↗
[The genetics of breast cancer. A genetic dispersion analysis and the genetic heterogeneity of breast cancer].
The multifactorial nature of breast cancer was established based on population and family study, the contribution of genetic factors being 52% (premenopausal--62 and postmenopausal--39%). Genetic heterogeneity of different coefficients of inheritance of breast cancer with the portion of common genes was shown to be 53%. The analysis of breast cancer interaction with other malignant neoplasms revealed that the development of other malignant neoplasms was the result of the influence of partially common genes. On the basis of data obtained in this study, the tables of repeated risk for the relatives have been worked out which may be used for medico-genetic consultations.
Breast Neoplasms↗
Cytogenetics and molecular genetics of ovarian cancer.
Genetic alterations identified in human ovarian tumors by conventional banding, fluorescence in situ hybridization, comparative genomic hybridization, chromosome microdissection, loss of heterozygosity, chromosome microcell-mediated chromosome transfer, and microarray gene expression analysis are summarized and correlated. The significance of these findings with respect to pathologic classification and clinical application are discussed.
Chromosome Aberrations↗
Psychological issues in genetic testing for breast cancer.
Genetic testing for inherited forms of breast cancer is currently available to individuals who want to learn their genetic status for the BRCA1 and BRCA2 genes. Although still largely limited to research programs, widespread commercial testing and incorporation of genetic testing into primary care practices will occur in the not too distant future. Despite the availability of this technology, treatment and prevention strategies offered to these often healthy women are limited and somewhat controversial. Due to the medical and emotional complexities associated with the gap between genetic information and treatment interventions, behavioral scientists are currently investigating the psychosocial implications involved in genetic testing for the BRCA1/2 genes. This article attempts to summarize the current research models, and reviews the most recent findings of investigations evaluating the emotional and behavioral implications associated with genetic testing for breast cancer susceptibility.
BRCA2 Protein↗
A gene expression signature of genetic instability in colon cancer.
Genetic instability plays a central role in the development and progression of human cancer. Two major classes of genetic instability, microsatellite instability (MSI) and chromosome instability (microsatellite stable; MSS), are best understood in the context of colon cancer, where MSI tumors represent approximately 15% of cases, and compared with MSS tumors, more often arise in the proximal colon and display favorable clinical outcome. To further explore molecular differences, we profiled gene expression in a set of 18 colon cancer cell lines using cDNA microarrays representing approximately 21,000 different genes. Supervised analysis identified a robust expression signature distinguishing MSI and MSS samples. As few as eight genes predicted with high accuracy the underlying genetic instability in the original and in three independent sample sets, comprising 13 colon cancer cell lines, 61 colorectal tumors, and 87 gastric tumors. Notably, the MSI signature was retained despite genetically correcting the underlying instability, suggesting the signature reflects a legacy of the tumor having arisen from MSI, rather than sensing the ongoing state of MSI. Our findings support a model in which MSI and MSS preferentially target different genes and pathways in cancer. Further, among the MSI signature genes, our findings implicate a role of elevated metallothionein expression in the clinical behavior of MSI cancers.
Adaptor Proteins, Signal Transducing↗
Genetic predispositions to colorectal cancer.
Genetic predispositions to colorectal cancer can schematically be divided in two categories depending on the presence or absence of a diffuse polyposis i.e.: a large number of adenomatous polyps in the colon and rectum of affected patients. These syndromes are referred as familial adenomatous polyposis coli and hereditary non polyposis colon cancer (HNPCC) respectively. The gene which when altered causes familial adenomatous polyposis coli is called APC and has been identified in 1991 but the function of its product remained elusive. Recent experimental data indicate that the APC protein can interact with catenins and tubulins, two groups of proteins known to be components of adherens junctions and cytoskeleton. Thus the APC protein may play a role in cell adhesion and in transduction of signal regulating the cell cycle. Of more immediate clinical interest is the observation that specific APC mutations appear to participate in the severity of the disease and determine the development of hypertrophy of the retinal pigment epithelium, a diagnostically important manifestation of the APC disease found in 70% of the patients. HNPCC syndromes have been recognized as being frequently associated with a defect in the DNA mismatch repair pathway. Furthermore, human genes, demonstrating homology with the bacterial DNA repair genes MutS and MutL, have been identified and shown to be altered in several HNPCC families. There are now indications that genotyping of tumor DNA at particular loci, termed microsatellite, may contribute in the identification of patients genetically predisposed to tumor development.(ABSTRACT TRUNCATED AT 250 WORDS)
Adenomatous Polyposis Coli↗