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Lynch syndrome: from detection to treatment.

Published version
Peer-reviewed

Repository DOI


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Authors

Williams, Madeleine H 
Hadjinicolaou, Andreas V 
Norton, Benjamin C 
Kader, Rawen 
Lovat, Laurence B 

Abstract

Lynch syndrome (LS) is an inherited cancer predisposition syndrome associated with high lifetime risk of developing tumours, most notably colorectal and endometrial. It arises in the context of pathogenic germline variants in one of the mismatch repair genes, that are necessary to maintain genomic stability. LS remains underdiagnosed in the population despite national recommendations for empirical testing in all new colorectal and endometrial cancer cases. There are now well-established colorectal cancer surveillance programmes, but the high rate of interval cancers identified, coupled with a paucity of high-quality evidence for extra-colonic cancer surveillance, means there is still much that can be achieved in diagnosis, risk-stratification and management. The widespread adoption of preventative pharmacological measures is on the horizon and there are exciting advances in the role of immunotherapy and anti-cancer vaccines for treatment of these highly immunogenic LS-associated tumours. In this review, we explore the current landscape and future perspectives for the identification, risk stratification and optimised management of LS with a focus on the gastrointestinal system. We highlight the current guidelines on diagnosis, surveillance, prevention and treatment and link molecular disease mechanisms to clinical practice recommendations.

Description

Peer reviewed: True

Keywords

cancer diagnosis, cancer treatment, colorectal cancer, lynch syndrome, mismatch repair (MMR) deficiency, surveillance

Journal Title

Front Oncol

Conference Name

Journal ISSN

2234-943X
2234-943X

Volume Title

Publisher

Frontiers Media SA