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.
Part1 : GENETIC CAUSES AND ASSOCIATED PHENOTYPES- Lynch syndrome.- The molecular basis of Lynch-like syndrome.- Constitutional mismatch repair deficiency.- Mismatch repair proficient hereditary non-polyposis colorectal cancer.- Genetic and environmental modifiers of risk in Lynch syndrome.- ADENOMATOUS POLYPOSIS SYNDROMES- Introduction.- Familial adenomatous polyposis.- Polymerase proofreading-associated polyposis.- MUTYH-associated polyposis.- NTHL1-associated polyposis.- Germline biallelic inactivation of MMR genes (with polyposis phenotype).- Unexplained adenomatous polyposis.- HAMARTOMATOUS POLYPOSIS SYNDROMES- Peutz-Jeghers syndrome.- Juvenile polyposis syndrome.- PTEN-hamartoma tumor syndromes.- Other hamartomatous polyposis conditions.- HEREDITARY MIXED POLYPOSIS SYNDROME.- SERRATED POLYPOSIS SYNDROME.- Part2: GENETIC DIAGNOSTICS and CLINICAL MANAGEMENT.- Genetic testing in hereditary colorectal cancer.- Universal tumor screening for Lynch syndrome.- Classification of genetic variants. Prediction modellsÄ