Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, caused by heterozygous mutations in the mismatch repair (MMR) genes. Biallelic mutations in these genes lead however, to constitutive mismatch repair deficiency (CMMRD). In this study, we follow the diagnostic journe...

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Bibliographic Details
Main Authors: Ceres Fernández-Rozadilla, Miriam Alvarez-Barona, Esther Schamschula, Sahra Bodo, Anael Lopez-Novo, Andres Dacal, Consuelo Calviño-Costas, Angel Lancho, Jorge Amigo, Xabier Bello, Jose Manuel Cameselle-Teijeiro, Angel Carracedo, Chrystelle Colas, Martine Muleris, Katharina Wimmer, Clara Ruiz-Ponte
Format: Article
Language:English
Published: MDPI AG 2019-07-01
Series:Cancers
Subjects:
Lynch syndrome
CMMRD
phenotypic continuum
genetic modifiers
whole-exome sequencing
Online Access:https://www.mdpi.com/2072-6694/11/8/1081

Internet

https://www.mdpi.com/2072-6694/11/8/1081

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