Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
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ABSTRACT:
SUBMITTER: Fernandez-Rozadilla C
PROVIDER: S-EPMC6721314 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Publications
Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
Fernandez-Rozadilla Ceres C Alvarez-Barona Miriam M Schamschula Esther E Bodo Sahra S Lopez-Novo Anael A Dacal Andres A Calviño-Costas Consuelo C Lancho Angel A Amigo Jorge J Bello Xabier X Cameselle-Teijeiro Jose Manuel JM Carracedo Angel A Colas Chrystelle C Muleris Martine M Wimmer Katharina K Ruiz-Ponte Clara C
Cancers 20190730 8
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 journey of a 12-year old patient with CRC, with a clinical phenotype overlapping CMMRD. We perform molecular and functional assays to discard a CMMRD diagnosis then identify by exome sequencing and validati ...[more]
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