Ontology highlight
ABSTRACT:
SUBMITTER: Geurts-Giele WR
PROVIDER: S-EPMC6625132 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Geurts-Giele Willemina R WR Rosenberg Efraim H EH Rens Anja van AV Leerdam Monique E van MEV Dinjens Winand N WN Bleeker Fonnet E FE
Molecular genetics & genomic medicine 20190518 7
<h4>Background</h4>Lynch syndrome (LS) is caused by germline mismatch repair (MMR) gene mutations. De novo MMR gene mutations are rare, and somatic mosaicism in LS is thought to be infrequent. We describe the first case of somatic mosaicism by a de novo MLH1 mutation for a patient diagnosed with a rectosigmoid adenocarcinoma at age 31.<h4>Methods</h4>Twelve years after initial colorectal cancer diagnosis, tumor tissue of the patient was tested with sensitive next generation sequencing (NGS) anal ...[more]