Lynch Syndrome: From Screening to Diagnosis to Treatment in the Era of Modern Molecular Oncology.
Annu Rev Genomics Hum Genet
; 20: 293-307, 2019 08 31.
Article
em En
| MEDLINE
| ID: mdl-30848956
ABSTRACT
Lynch syndrome is a hereditary cancer predisposition syndrome caused by germline alterations in the mismatch repair genes and is the most common etiology of hereditary colorectal cancer. While Lynch syndrome was initially defined by the clinical Amsterdam criteria, these criteria lack the sensitivity needed for clinical utility. This review covers the evolution of screening for Lynch syndrome from the use of tumor microsatellite instability and/or somatic alterations in mismatch repair protein expression by immunohistochemistry to the newest methods using next-generation sequencing. Additionally, it discusses the clinical implications of the diagnosis of Lynch syndrome as it affects cancer therapeutics and the role of screening in noncolorectal Lynch-associated cancers. As molecular oncology continues to evolve, it is crucial to remain current on the increasing complexity of Lynch syndrome diagnostics and treatment options.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Colorretais Hereditárias sem Polipose
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Regulação Neoplásica da Expressão Gênica
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Enzimas Reparadoras do DNA
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Instabilidade de Microssatélites
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Reparo de Erro de Pareamento de DNA
Tipo de estudo:
Diagnostic_studies
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Screening_studies
Limite:
Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article