Abstract
Familial colorectal cancer syndromes pose a complex challenge to the treating clinician. Once a syndrome is recognized, genetic testing is often required to confirm the clinical suspicion. Management from that point is usually based on disease-specific guideline recommendations targeting risk reduction for the patient and their relatives through surgery, surveillance and chemoprophylaxis. The aim of this paper is to provide an up-to-date summary of the most common familial syndromes and their medical and surgical management, with specific emphasis on evidence-based interventions that improve patient outcome, and to present the information in a manner that is easily readable and clinically relevant to the treating clinician.
Keywords:
Lynch; adenoma; colorectal cancer; familial; polyposis.
MeSH terms
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Adenomatous Polyposis Coli / genetics
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Adenomatous Polyposis Coli / pathology
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Adenomatous Polyposis Coli / therapy*
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Biomarkers, Tumor / genetics*
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Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
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Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
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Colorectal Neoplasms, Hereditary Nonpolyposis / therapy*
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Genetic Predisposition to Disease
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Genetic Testing
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Heredity
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Humans
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Intestinal Polyposis / congenital*
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Intestinal Polyposis / genetics
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Intestinal Polyposis / pathology
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Intestinal Polyposis / therapy
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Neoplastic Syndromes, Hereditary / genetics
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Neoplastic Syndromes, Hereditary / pathology
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Neoplastic Syndromes, Hereditary / therapy*
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Pedigree
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Peutz-Jeghers Syndrome / genetics
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Peutz-Jeghers Syndrome / pathology
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Peutz-Jeghers Syndrome / therapy*
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Phenotype
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Predictive Value of Tests
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Treatment Outcome
Supplementary concepts
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Juvenile polyposis syndrome