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Eye --- Diseases --- Genetic aspects.
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The 2006 third edition of this very successful book provides a comprehensive and practical guide to the diagnosis and management of inherited disorders conferring susceptibility to cancer. Issues discussed include risk assessment, genetic counselling, predictive testing and organisation of a cancer genetics service. A full reference list gives access to background literature. With molecular information, screening guidelines and management advice, this new edition will provide geneticists and clinicians in all disciplines with an invaluable resource for screening, managing and advising patients.
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This Element serves as a welcome to the Cambridge Elements Genetics in Epilepsy series. The series editors look forward to sharing with you the story of epilepsy genetics through a series of Elements. They will bring together many voices, by text as well as video, to illustrate the history of epilepsy genetics, the many on-going efforts in the field, and how they hope to address the still unanswered questions that command the attention of all of us and our colleagues across the globe.
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This book is a printed edition of the Special Issue "B-Vitamins and One-Carbon Metabolism" that was published in Nutrients.
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Malgré les avancées de la recherche et de la prise en charge, le cancer continue à représenter une menace, voire une fatalité. Pour certaines familles dans lesquelles les femmes sont atteintes du cancer du sein ou de l'ovaire sur plusieurs générations, il finit par générer une angoisse difficilement supportable. Et si l'on pouvait détecter le risque de cancer dans nos gênes ? C'est précisément l'objectif du test BRCA qui a récemment été mis au devant de la scène. Ce livre vous emmène sur le cheminement des patients curieux de connaître leur statut génétique afin d'anticiper le risque de cancer. Il décrit les consultations d'oncogénétique afin de les rendre moins dramatiques et angoissantes, mais il interroge aussi et surtout les multiples dimensions psychologiques et éthiques qui entrent en jeu dans l'analyse génétique. Les patients, porteurs ou non de la mutation, sont mis à rude épreuve et le lecteur comprendra, à travers les situations décrites, quel impact une telle analyse peut avoir sur la vie du patient. Hélène Chaumet est psychologue clinicienne aux Hospices Civils de Lyon, et a 15 ans de pratique à son actif. Une grande partie de son temps est consacrée aux prises en charge psychothérapiques au long cours. Au fil de son parcours professionnel, elle a participé à diverses formations, élaborations entre collègues et groupes de travail, notamment au sein de l'Association des Psychologues Cliniciens en Milieu Médical.
Breast --- Cancer --- Genetic aspects.
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Mutations in the BRCA1/2 genes are the most common cause of hereditary breast and ovarian cancer (HBOC), and HBOC is an autosomal dominant cancer predisposition syndrome. Individuals with HBOC have a high risk for breast and ovarian cancers and a moderate risk for other cancers, such as prostate, pancreatic, melanoma, and fallopian tube cancers. The goal of screening individuals at high risk of familial cancer is either prevention (such as a change in lifestyle or diet) or early detection of cancer. The identification of BRCA mutation carriers is important, since increased surveillance, drug therapy, and prophylactic surgery can reduce cancer-related morbidity and mortality. In recent years, there has been substantial development in BRCA-associated hereditary breast and/or breast-ovarian cancer research and its clinical applications. In this context, this book consolidates the recent advances in BRCA-related cancer biology and therapeutics, covering a wide spectrum of interrelated topics. Chapters cover a wide range of topics, such as BRCA discovery, BRCA structure and function, BRCA-associated cancers, BRCA genetic testing and counselling, and more. This book is a valuable resource not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants.
Breast --- Cancer --- Genetic aspects.