BookLaura Valle, Stephen B. Gruber, Gabriel Capellá, editors.
Summary: 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.
Contents:
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 models for Lynch syndrome
Surveillance guidelines for hereditary colorectal cancer syndromes
Surgical management of hereditary colorectal cancer syndromes
Chemoprevention in hereditary colorectal cancer syndromes
Immunotherapy in hereditary colorectal cancer
The Immune Biology of Microsatellite Unstable cancer
Hereditary colorectal cancer: Immunotherapy approaches
Medical oncology management of hereditary colorectal cancer. Part3: REGISTRIES and DATABASES
Databases: intentions, capabilities and limitations
The Colon Cancer Family Registry Cohort
The Prospective Lynch Syndrome Database
The InSiGHT Database: An example LOVD system
The International Mismatch Repair Consortium.