Dna Alterations In Lynch Syndrome
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Author | : Matjaž Vogelsang |
Publisher | : Springer |
Total Pages | : 0 |
Release | : 2013-05-25 |
Genre | : Medical |
ISBN | : 9789400765962 |
Lynch syndrome (LS) is the most common cause of inherited colorectal cancer, a disease with a high mortality rate. An estimated 37,000 of diagnosed colorectal cancer cases worldwide are attributed to Lynch syndrome each year. Intensive cancer screening, with early initiation and frequent follow-up, can reduce colorectal cancer incidence and mortality in LS patients. This book provides an up-to-date overview on the genetic and epigenetic basis of Lynch syndrome. It evaluates clinical features of the disease and critically comments on molecular tools available for identifying mutations responsible for Lynch syndrome; in addition the importance of functional assays that can help clarify the clinical nature of identified mutations is also discussed. The book also focuses on challenges in genetic counselling of at-risk individuals and discusses related ethical issues. The purpose of the book is to give a concise knowledge base for the broader scientific and medical community, including genetic counselors, in order to improve awareness on the potential impact that the diagnosis of LS has on treatment, management and surveillance of LS patients.
Author | : Matjaž Vogelsang |
Publisher | : Springer Science & Business Media |
Total Pages | : 216 |
Release | : 2013-11-19 |
Genre | : Medical |
ISBN | : 9400765975 |
Lynch syndrome (LS) is the most common cause of inherited colorectal cancer, a disease with a high mortality rate. An estimated 37,000 of diagnosed colorectal cancer cases worldwide are attributed to Lynch syndrome each year. Intensive cancer screening, with early initiation and frequent follow-up, can reduce colorectal cancer incidence and mortality in LS patients. This book provides an up-to-date overview on the genetic and epigenetic basis of Lynch syndrome. It evaluates clinical features of the disease and critically comments on molecular tools available for identifying mutations responsible for Lynch syndrome; in addition the importance of functional assays that can help clarify the clinical nature of identified mutations is also discussed. The book also focuses on challenges in genetic counselling of at-risk individuals and discusses related ethical issues. The purpose of the book is to give a concise knowledge base for the broader scientific and medical community, including genetic counselors, in order to improve awareness on the potential impact that the diagnosis of LS has on treatment, management and surveillance of LS patients.
Author | : John D. Potter |
Publisher | : Springer |
Total Pages | : 309 |
Release | : 2008-12-08 |
Genre | : Medical |
ISBN | : 9780387095677 |
Genetic susceptibility refers to how variations in a person’s genes increase or decrease his or her susceptibility to environmental factors, such as chemicals, radiation and lifestyle (diet and smoking). This volume will explore the latest findings in the area of genetic susceptibility to gastrointestinal cancers, focusing on molecular epidemiology, DNA repair, and gene-environment interactions to identify factors that affect the incidence of GI cancers. Topics will include germline susceptibility, including Mendelian patterns of inheritance and gene-environment interactions that lead to cancer etiology.
Author | : Laura Valle |
Publisher | : Springer |
Total Pages | : 494 |
Release | : 2018-05-04 |
Genre | : Medical |
ISBN | : 3319742590 |
This book provides information on a wide variety of issues ranging from genetics to clinical description of the syndromes, genetic testing and counseling, and clinical management including surveillance, surgical and prophylactic interventions, and chemoprevention. Moreover, current hot issues, such as the identification of novel causal genes and the challenges we face, and the relevance of cancer risk modifiers, both genetic and environmental, are also discussed. This reference book is great for geneticists, oncologists, genetic counselors, researchers, clinicians, surgeons and nurses dedicated to, or interested in, hereditary cancer. The best and most recognized experts in the field have contributed to this project, guaranteeing updated information, accuracy and the discussion of topical issues.
Author | : Errol C. Friedberg |
Publisher | : American Society for Microbiology Press |
Total Pages | : 2587 |
Release | : 2005-11-22 |
Genre | : Science |
ISBN | : 1555813194 |
An essential resource for all scientists researching cellular responses to DNA damage. • Introduces important new material reflective of the major changes and developments that have occurred in the field over the last decade. • Discussed the field within a strong historical framework, and all aspects of biological responses to DNA damage are detailed. • Provides information on covering sources and consequences of DNA damage; correcting altered bases in DNA: DNA repair; DNA damage tolerance and mutagenesis; regulatory responses to DNA damage in eukaryotes; and disease states associated with defective biological responses to DNA damage.
Author | : Eric J. Bieber |
Publisher | : Cambridge University Press |
Total Pages | : 1127 |
Release | : 2015-04-23 |
Genre | : Medical |
ISBN | : 1107040396 |
Written with the busy practice in mind, this book delivers clinically focused, evidence-based gynecology guidance in a quick-reference format. It explores etiology, screening, tests, diagnosis, and treatment for a full range of gynecologic health issues. The coverage includes the full range of gynecologic malignancies, reproductive endocrinology and infertility, infectious diseases, urogynecologic problems, gynecologic concerns in children and adolescents, and surgical interventions including minimally invasive surgical procedures. Information is easy to find and absorb owing to the extensive use of full-color diagrams, algorithms, and illustrations. The new edition has been expanded to include aspects of gynecology important in international and resource-poor settings.
Author | : Naohiro Tomita |
Publisher | : Springer Nature |
Total Pages | : 143 |
Release | : 2020-08-24 |
Genre | : Medical |
ISBN | : 981156891X |
This book offers a comprehensive review of Lynch Syndrome (LS), addressing both the basic and clinical aspects of this condition. Due to the recent advances in our understanding of the genetic mechanism of LS, and to new screening methods, including universal screening and/or multi-gene panel analysis, the standard treatment strategy for patients and family members of LS have been steadily improving. In this book, experts describe the disease’s manifestations, discuss state-of-the-art diagnosis and management options, and offer a cutting-edge overview of the genetic and epigenetic basis of the syndrome. Providing essential insights into this new phase in the management of LS, this book is a valuable resource not only for colorectal surgeons, but also for general gastrointestinal clinicians, gynecologists, oncologists and all basic researchers with an interest in LS.
Author | : Michael Grasso III |
Publisher | : Springer |
Total Pages | : 0 |
Release | : 2016-10-15 |
Genre | : Medical |
ISBN | : 9783319371429 |
Upper Urinary Tract Urothelial Carcinoma was at one time felt to be a somewhat rare entity. With the success of various treatments for bladder urothelial carcinoma, the incidence of this disease in the uretere and kidney is rising. Many medical subspecialists encounter these complex patients and a multimodality treatment plan is often required for care.
Author | : Arun D. Singh |
Publisher | : Springer |
Total Pages | : 225 |
Release | : 2014-10-27 |
Genre | : Medical |
ISBN | : 3662434512 |
Written by internationally renowned experts, Clinical Ophthalmic Oncology provides practical guidance and advice on the diagnosis and management of the complete range of ocular cancers. The book supplies all of the state-of-the-art knowledge required in order to identify these cancers early and to treat them as effectively as possible. Using the information provided, readers will be able to provide effective patient care using the latest knowledge on all aspects of ophthalmic oncology, to verify diagnostic conclusions based on comparison with numerous full-color clinical photographs, and to locate required information quickly owing to the clinically focused and user-friendly format. In this volume, all aspects of the diagnosis, histopathology, genetics and treatment of retinoblastoma are discussed in detail.
Author | : Clara L. Gaff |
Publisher | : |
Total Pages | : 312 |
Release | : 2010 |
Genre | : Medical |
ISBN | : 0195369823 |
Genetics is in all senses a family affair. The diagnosis of a genetic condition affects not only the patient and biological family members who may themselves be at risk, but also "family" more generally as support may be sought from those considered kin and who may or may not be at risk themselves. It is considered best practice in genetic consultations to explore who will be informed within the family when a genetic condition or risk is diagnosed, particularly when the health of other family members is at risk. There is little guidance or consensus on how to achieve the implicit goal of informed family members while respecting patient confidentiality, however. There is a need for practitioners to be aware of the dynamics of family communication and to have guidance about how they may sensitively facilitate communication about genetics within families. This handbook facilitates the development of clinical practices relating to family communication about genetics. Relevant theories of family communication are summarized and related to a clinical genetics milieu and, from this, frameworks for practitioners are presented. A book of this nature is particularly timely as the completion of the Human Genome Project will result in an unprecedented amount of information about genetic constitution and health risks becoming available to individuals and their families. The presence of a potentially genetic condition in a family is not a new phenomenon. However, the growth in testing for genetic conditions, common complex conditions and variants that may influence health as well as drug metabolism means that a greater number of individuals will face decisions about communicating this information to their relatives. Many health professionals in all levels of health care will be confronted with issues of responsibility and practice in family communication about genetic information as they become providers of this testing.