CNV and RNA analysis reveal a germline pathogenic duplication of MSH2 exon 15 in a family with Lynch syndrome: A case report

6 December, 2023

CNV and RNA analysis reveal a germline pathogenic duplication of MSH2 exon 15 in a family with Lynch syndrome: A case report

Despina Apostolopoulou1 ; Mustafa Özdoğan2 ; Konstantinos Agiannitopoulos1 *; Georgia Pepe1 ; Kevisa Potska1 ; Georgios N Tsaousis1 ; Nikolaos Tsoulos1 ; Eleni Patsea3 ; Onder Kırca2 ; Muharrem Okan Çakır4 ; Eirini Papadopoulou1 ; George Nasioulas1

MEKLĒT

CNV and RNA analysis reveal a germline pathogenic duplication of MSH2 exon 15 in a family with Lynch syndrome: A case report