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DNA Alterations in Lynch Syndrome - Advances in molecular diagnosis and genetic counselling (Hardcover, 2013 ed.)
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DNA Alterations in Lynch Syndrome - Advances in molecular diagnosis and genetic counselling (Hardcover, 2013 ed.)
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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.
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