Download or read book Genetic Alterations in Familial Breast Cancer Mapping and Cloning Genes Other Than BRCA1 written by and published by . This book was released on 1996 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The purpose of this project is to identify genes responsible for inherited susceptibility to breast cancer in families. Two such genes have been cloned (BRCA1 and BRCA2), but the existence of families with many cases of breast cancer but no mutations in these genes suggests that other BRCA genes may exist. Using an integrated approach involving dissection of germline chromosomal rearrangements in women with very early onset breast cancer, coupled with linkage analysis in families, we are cloning the gene on chromosome 10q responsible for Cowden disease and possibly for breast cancer in the absence of other Cowden symptoms.
Download or read book Genetic Alterations in Familiar Breast Cancer Mapping and Cloning Genes Other Than BRCAl written by and published by . This book was released on 1995 with total page 15 pages. Available in PDF, EPUB and Kindle. Book excerpt: The purpose of this project is to identify genes other than BRCA1 responsible for inherited predisposition to breast cancer, to identify critical mutations, to evaluate the frequency of inherited mutations in these genes among breast cancer patients from the general population, and to determine the role of somatic mutations in these genes in malignant breast tumors. The patient materials are kindreds with at least four cases of breast cancer, in whom disease is not linked to BRCA1. Twenty-one families have been sampled, lymphocyte lines established, and linkage evaluated at multiple chromosomal locales. Linkage analysis of these kindreds reveals convincing linkage to BRCA2 in three families and to the estrogen receptor in three other families. Five other candidate chromosomal regions have been screened as well. Probands from 139 other high-risk kindreds have been contacted. Of these families, 21 will be informative for linkage. Sampling of these 21 extended families is in progress. This will bring the cohort to 42 families in all.
Download or read book Genetic Alterations in Familial Breast Cancer Mapping and Cloning Genes Other Than BRCAl written by Mary-Claire King and published by . This book was released on 1997 with total page 26 pages. Available in PDF, EPUB and Kindle. Book excerpt: The purpose of this project was to identify genes responsible for inherited predisposition to Breast cancer in families. The gene PTEN was successfully cloned by this project, and simultaneously by others (for a different reason) and proved to be such a gene. This project indicated that inherited mutations in PTEN predispose to breast cancer in women with the rare Cowden's syndrome. However, symptoms of that syndrome may be very subtle, so breast cancer may be the first sign to appear. Inherited mutations in PTEN predispose to multiple other cancers that may appear with breast cancer in these patients. Also, this project demonstrated the value of patients with germline translocations and breast cancer for the identification of tumor suppressor genes.
Download or read book Mammography and Beyond written by National Research Council and published by National Academies Press. This book was released on 2001-07-23 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each year more than 180,000 new cases of breast cancer are diagnosed in women in the U.S. If cancer is detected when small and local, treatment options are less dangerous, intrusive, and costly-and more likely to lead to a cure. Yet those simple facts belie the complexity of developing and disseminating acceptable techniques for breast cancer diagnosis. Even the most exciting new technologies remain clouded with uncertainty. Mammography and Beyond provides a comprehensive and up-to-date perspective on the state of breast cancer screening and diagnosis and recommends steps for developing the most reliable breast cancer detection methods possible. This book reviews the dramatic expansion of breast cancer awareness and screening, examining the capabilities and limitations of current and emerging technologies for breast cancer detection and their effectiveness at actually reducing deaths. The committee discusses issues including national policy toward breast cancer detection, roles of public and private agencies, problems in determining the success of a technique, availability of detection methods to specific populations of women, women's experience during the detection process, cost-benefit analyses, and more. Examining current practices and specifying research and other needs, Mammography and Beyond will be an indispensable resource to policy makers, public health officials, medical practitioners, researchers, women's health advocates, and concerned women and their families.
Download or read book Understanding Breast Cancer Genetics written by Barbara T. Zimmerman and published by Univ. Press of Mississippi. This book was released on 2004 with total page 142 pages. Available in PDF, EPUB and Kindle. Book excerpt: Health & Sickness -- Consumer Health This book by a scientist whose background is in cellular and molecular biology examines the fearsome disease that strikes one in eight women in the United States. Although women are more likely to die of heart disease or of lung cancer, a diagnosis of breast cancer is the medical pronouncement that a woman is most likely to fear. It kills more than 40,000 Americans annually. Why are some women more vulnerable than others? The interplay between genetics and environment is suspected. Thus this book for general readers will help them understand the genetic bases of both sporadic and inherited breast cancers. Although only five to ten percent of breast cancer patients have inherited mutations in these genes, all women need to understand the genetic implications of the disease. In clear, concise language Barbara T. Zimmerman guides the reader through the complexities, discussing in detail the genes that are known to increase susceptibility and the ways they are passed on. Examining the general biology of breast cancer, Zimmerman describes how sporadic and inherited forms of the disease arise and how the location of the tumors can affect the body. She discusses genetic mutations and their roles in the development of tumors and tells how these potentially cancer-inducing genes were discovered. Covered too are the issues of risk, prevention, screening, diagnosis, therapy, and genetic testing and counseling. Zimmerman concludes with a comprehensive analysis of current research and with an emphasis on how a woman's understanding of inherited breast cancer can help doctors seeking to design better methods for prevention and therapy. A useful list of resources for further information about the genetic causes of breast cancer is included. Barbara T. Zimmerman did her graduate work in experimental pathology and her post-doctoral research in the cellular and molecular processes of disease. Widely published, she is the manager of the Denver-based firm Biomedical Communication and Consulting.
Download or read book Accomplishments Collaborative Projects and Future Initiatives in Breast Cancer Genetic Predisposition written by Paolo Peterlongo and published by Frontiers Media SA. This book was released on 2019-10-16 with total page 141 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this eBook, we described the accomplishments, collaborative projects and future initiatives in the field of breast cancer genetic predisposition. More specifically, the articles included focused on aspects such as mutation screening in unexplored populations, identification and characterization of novel predisposing genes and mutations, and population screening.
Download or read book Hereditary Breast and Ovarian Cancer and the BRCA1 Gene written by Lucio Hernán Castilla and published by . This book was released on 1995 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Identification and Genetic Mapping of Genes for Hereditary Breast Cancer and Ovarian Cancer in Families Unlinked to BRCA1 written by and published by . This book was released on 1999 with total page 172 pages. Available in PDF, EPUB and Kindle. Book excerpt: A family history of breast cancer is a major risk factor for developing breast cancer, with estimates that up to 10% of breast cancer is due to a genetic predisposition. The original objective of this grant was to localize BRCA2. At the time the grant was funded, we had localized BRCA2, so we modified the aims to isolate BRCA2. Our collaborator on this grant, Dr. Stratton, isolated BRCA2 at the end of 1995. The aims were modified to characterize BRCA2, including identifying mutations in high-risk breast cancer families, identifying BRCA2 mutation carriers, investigating mutation origin of recurrent mutations, examining age-specific penetrance and risks of other cancers, and exploring other factors which may modulate risks of developing cancer in BRCA2 mutation carriers.
Download or read book Identification and Genetic Mapping of Genes for Hereditary Breast and Ovarian Cancer in Families Unlinked to BRCA1 written by and published by . This book was released on 1996 with total page 11 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since the last annual report, the BRCA2 gene was cloned by our collaborator on this grant. We identified the complete BRCA2 sequence which encodes a protein of 3,418 amino acids. Due to the successful completion of several of the aims, we added additional goals. We have identified predisposing mutations in six of our families and a polymorphism in a seventh. We are continuing to screen for mutations in our additional families using SSCP. Now that the gene has been isolated and mutations are being identified rapidly, we are constructing a database of haplotypes of mutations. In a collaborative project, we will examine common mutations to investigate mutation origin.
Download or read book Genetic Predisposition to Cancer written by Rosalind A. Eeles and published by Springer. This book was released on 2013-11-11 with total page 423 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Identification and Genetic Mapping of Genes for Hereditary Breast and Ovarian Cancer in Families Linked to BRCA1 written by and published by . This book was released on 1997 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: We have continued to screen for BRCA2 mutations in our high-risk breast cancer kindreds and now have identified 10 deleterious mutations, 5 missense mutations of unknown significance and 3 polymorphisms. Our collaborator has screened an additional 150 families and identified 8 deleterious mutations and 1 missense mutation of unknown significance. There are an additional five families which are clearly linked to BRCA2 for which no mutations have been identified. We have begun to examine cases in those families for large deletions and/or rearrangements by probing Southern blots with 14 probes spaced within BRCA2.
Download or read book Genetics for Surgeons written by Patrick John Morrison and published by Remedica. This book was released on 2005 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: Morrison (human genetics, University of Ulster, UK) and Spence (biomedical science, University of Ulster, UK) offer an accessible reference on the genetic disorders that surgeons can expect to meet in general surgical practice. Written in non-technical language, with a glossary, list of abbreviations, and color and b&w photos and medical images, the book supplies an introduction to the nomenclature and technology of molecular biology, and will be a useful starting point for those who wish to extend their knowledge. Annotation :2005 Book News, Inc., Portland, OR (booknews.com).
Download or read book Cancer Genomics for the Clinician written by Ramaswamy Govindan, MD and published by Springer Publishing Company. This book was released on 2019-01-28 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cancer Genomics for the Clinician is a practical guide to cancer genomics and its application to cancer diagnosis and care. The book begins with a brief overview of the various types of genetic alterations that are encountered in cancer, followed by accessible and applicable information on next generation sequencing technology and bioinformatics; tumor heterogeneity; whole genome, exome, and transcriptome sequencing; epigenomics; and data analysis and interpretation. Each chapter provides essential explanations of concepts, terminology, and methods. Also included are tips for interpreting and analyzing molecular data, as well as a discussion of molecular predictors for targeted therapies covering hematologic malignancies and solid tumors. The final chapter explains the use of FDA-approved genomic-based targeted therapies for breast cancer, lung cancer, sarcomas, gastrointestinal cancers, urologic cancers, head and neck cancer, thyroid cancer, and many more. Assembled in an accessible format specifically designed for the non-expert, this book provides the clinical oncologist, early career practitioner, and trainee with an essential understanding of the molecular and genetic basis of cancer and the clinical aspects that have led to advancements in diagnosis and treatment. With this resource, physicians and trainees will increase their breadth of knowledge and be better equipped to educate patients and families who want to know more about their genetic predispositions to cancer and the targeted therapies that could be considered and prescribed. Key Features: Describes how cancer genomics and next generation sequencing informs cancer screening, risk factors, therapeutic options, and clinical management across cancer types Explains what mutations are, what tests are needed, and how to interpret the results Provides information on FDA-approved targeted therapies that are being used in the clinic Covers different sequencing platforms and technologies and how they perform in research settings Includes access to the fully searchable eBook
Download or read book Holland Frei Cancer Medicine written by Robert C. Bast, Jr. and published by John Wiley & Sons. This book was released on 2017-03-10 with total page 2004 pages. Available in PDF, EPUB and Kindle. Book excerpt: Holland-Frei Cancer Medicine, Ninth Edition, offers a balanced view of the most current knowledge of cancer science and clinical oncology practice. This all-new edition is the consummate reference source for medical oncologists, radiation oncologists, internists, surgical oncologists, and others who treat cancer patients. A translational perspective throughout, integrating cancer biology with cancer management providing an in depth understanding of the disease An emphasis on multidisciplinary, research-driven patient care to improve outcomes and optimal use of all appropriate therapies Cutting-edge coverage of personalized cancer care, including molecular diagnostics and therapeutics Concise, readable, clinically relevant text with algorithms, guidelines and insight into the use of both conventional and novel drugs Includes free access to the Wiley Digital Edition providing search across the book, the full reference list with web links, illustrations and photographs, and post-publication updates
Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Download or read book Breast Cancer Gene Research and Medical Practices written by Sahra Gibbon and published by Routledge. This book was released on 2014-03-05 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: The discovery of the two inherited susceptibility genes BRCA1 and BRCA2 in the mid-1990s created the possibility of predictive genetic testing and led to the establishment of specific medical programmes for those at high risk of developing breast cancer in the UK, US and Europe. The book provides a coherent structure for examining the diversity of practices and discourses that surround developments linked to BRCA genetics, and to the evolving field of genetics more broadly. It will be of interest to students and scholars of anthropology, sociology, history of science, STS, public health and bioethics. Chapter 8 of this book is freely available as a downloadable Open Access PDF at http://www.taylorfrancis.com under a Creative Commons Attribution-Non Commercial-No Derivatives (CC-BY-NC-ND) 3.0 license.
Download or read book Cells and Surveys written by National Research Council and published by National Academies Press. This book was released on 2001-01-19 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: What can social science, and demography in particular, reasonably expect to learn from biological information? There is increasing pressure for multipurpose household surveys to collect biological data along with the more familiar interviewer-respondent information. Given that recent technical developments have made it more feasible to collect biological information in non-clinical settings, those who fund, design, and analyze survey data need to think through the rationale and potential consequences. This is a concern that transcends national boundaries. Cells and Surveys addresses issues such as which biologic/genetic data should be collected in order to be most useful to a range of social scientists and whether amassing biological data has unintended side effects. The book also takes a look at the various ethical and legal concerns that such data collection entails.
