Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

Inherited mutations in the DNA mismatch repair genes (MMR) can cause MMR deficiency and increased susceptibility to colorectal and endometrial cancer. Microsatellite instability (MSI) is the defining molecular signature of MMR deficiency. The clinical classification of identified MMR gene sequence v...

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Main Authors: Bryony A. Thompson, Amanda B. Spurdle
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2015-03-01
Colecção:Genes
Assuntos:
lynch syndrome
variants of uncertain significance
mismatch repair
variant classification
multifactorial likelihood model
Acesso em linha:http://www.mdpi.com/2073-4425/6/2/150
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