Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
CMMRD
Lynch syndrome
genetic modifiers
phenotypic continuum
whole-exome sequencing
Journal
Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829
Informations de publication
Date de publication:
30 Jul 2019
30 Jul 2019
Historique:
received:
11
07
2019
revised:
18
07
2019
accepted:
25
07
2019
entrez:
2
8
2019
pubmed:
2
8
2019
medline:
2
8
2019
Statut:
epublish
Résumé
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 validation in a cohort of 134 LS patients, a candidate variant in the
Identifiants
pubmed: 31366136
pii: cancers11081081
doi: 10.3390/cancers11081081
pmc: PMC6721314
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Spanish National Centre for Genomic Analysis
ID : 300-exomes to elucidate Rare-Diseases
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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