Colorectal adenomatous polyposis syndromes: Genetic determinism, clinical presentation and recommendations for care

Bulletin du cancer
Bruno Buecher

Abstract

Colorectal adenomatous polyposis constitutes a diverse group of disorders with different modes of inheritance. Molecular diagnosis of this condition has become more complex. In fact, somatic mosaicism for APC mutations now appears to be more frequent than previously thought and rare germline alterations of this gene may be implicated in patients tested negative for "classical" APC mutations (point mutations and large genomic rearrangements). Moreover, the knowledge concerning several aspects of the MUTYH-associated polyposis has improved since its first description in 2002 and germline mutations in new genes have recently been implicated in some cases of unexplained adenomatous polyposis. Genetic testing in probands and their relatives should be conducted in the context of pre- and post-test genetic counseling. The recent advent of New Generation Sequencing (NGS) techniques affords the opportunity to rapidly screen patients for a comprehensive panel of colorectal cancer susceptibility genes in a cost-effective fashion. This type of approach will probably replace the classical sequential approach based on clinical presumptive diagnoses in the near future. The risk of colorectal cancer is very high in affected patients in the abs...Continue Reading

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Citations

Nov 22, 2012·Gastrointestinal Endoscopy Clinics of North America·Rahul Pannala, Andrew S Ross
Feb 7, 2020·Clinical Oral Investigations·Fabiana Tolentino AlmeidaEliete Neves Silva Guerra

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