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Familial Cancer

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09.01.2019 | Review

Recent advances in Lynch syndrome

verfasst von: Leah H. Biller, Sapna Syngal, Matthew B. Yurgelun

Erschienen in: Familial Cancer | Ausgabe 2/2019

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Abstract

Lynch syndrome is one of the most common hereditary cancer predisposition syndromes and is associated with increased risks of colorectal and endometrial cancer, as well as multiple other cancer types. While the mechanism of mismatch repair deficiency and microsatellite instability and its role in Lynch-associated carcinogenesis has been known for some time, there have been significant advances recently in diagnostic testing and the understanding of the molecular pathogenesis of Lynch tumors. There is also an increased awareness that the clinical phenotype and cancer risk varies by specific mismatch repair mutation, which in turn has implications on surveillance strategies for patients. Even the treatment of Lynch-associated cancers has changed with the addition of immunotherapy for advanced disease. This progress report aims to review some of the many advances in epidemiology, molecular pathogenesis, diagnosis, clinical phenotype, cancer surveillance, treatment, and chemo- and immune-prevention strategies in the Lynch syndrome field over the past 5 years.

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Titel: Recent advances in Lynch syndrome
verfasst von: Leah H. Biller
Sapna Syngal
Matthew B. Yurgelun
Publikationsdatum: 09.01.2019
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 2/2019
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-018-00117-1

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