- Multidisciplinary treatment of desmoid tumours in Gardner's syndrome due to a large interstitial deletion of chromosome 5qM Casper
From the Department of Medicine II, Saarland University Medical Center, Homburg, Germany, Institute of Medical Biology and Human Genetics, Medical University Graz, Graz, Austria, Institute of Human Genetics, Saarland University Medical Center, Homburg, Department of Radiotherapy and Radiooncology, Saarland University Medical Center, Homburg, Department of Radiology, Saarland University Medical Center, Homburg and Department of Medicine 3, Westpfalz Hospital, Kaiserslautern, Germany
QJM 107:521-7. 2014..Cytogenetically visible deletions of chromosome 5q encompassing APC have very rarely been reported. Here, we aimed to phenotypically and genetically characterize a patient with a heterozygous 5q deletion resulting in Gardner's syndrome...
- The MUTYH hotspot mutations p.G396D and p.Y179C do not cause substantial genetic susceptibility to biliary cancerM Casper
Department of Medicine II, Saarland University Medical Center, Kirrberger Straße 100, 66421, Homburg, Germany
Fam Cancer 13:243-7. 2014..Due to the low statistical power for the identification of small effect sizes, much larger studies will be needed to detect such effects of minor clinical significance...
- Hepatocellular carcinoma as extracolonic manifestation of Lynch syndrome indicates SEC63 as potential target gene in hepatocarcinogenesisMarkus Casper
Department of Medicine II, Saarland University Medical Center, Homburg, Germany
Scand J Gastroenterol 48:344-51. 2013..Hepatocellular carcinoma (HCC) has not been considered part of the tumor spectrum. The aim was to provide a detailed molecular characterization of an HCC associated with Lynch Syndrome (Muir-Torre variant)...
- MUTYH hotspot mutations in unselected colonoscopy patientsM Casper
Department of Medicine II, Saarland University Medical Centre, Homburg, Germany
Colorectal Dis 14:e238-44. 2012..Y179C and p.G396D account for the majority of pathogenic variants of MUTYH in Caucasians. Our aim was to evaluate the prevalence of MUTYH mutations in a prospective cohort of unselected patients with different colorectal diseases...