Publications by authors named "R Hueneburg"
Article Synopsis
- - MAP is a rare genetic condition that leads to multiple colorectal polyps and increases the risk of colorectal cancer, along with other gastrointestinal tumors like duodenal carcinomas, caused by specific mutations in the gene.
- - The study examined 15 patients with these mutations over a median period of nearly 10 years, performing a total of 72 endoscopic procedures (EGDs), primarily to monitor gastrointestinal health.
- - It was found that many patients developed low-grade duodenal adenomas, but there were no serious complications like high-grade lesions or cancers, emphasizing the importance of specialized care for managing this condition.
In our study, we evaluated the effectiveness of upper gastrointestinal (GI) endoscopy as an instrument for early gastric cancer (GC) detection in Lynch syndrome (LS) patients by analyzing data from the registry of the German Consortium for Familial Intestinal Cancer. In a prospective, multicenter cohort study, 1128 out of 2009 registered individuals with confirmed LS underwent 5176 upper GI endoscopies. Compliance was good since 77.
View Article and Find Full Text PDFIntroduction: Prophylactic total gastrectomy is the treatment of choice in patients with germline mutation in the CDH1 gene and therefore high risk for hereditary diffuse gastric cancer (HDGC). Minimally invasive techniques have been established in recent years for treatment of gastric cancer.
Methods: We report findings with 12 patients with proven CDH1 mutation who underwent multidisciplinary treatment between 2013 and 3/2018 in our centre for hereditary tumour diseases, followed by prophylactic total gastrectomy in our department.
Colorectal cancer (CRC) arising in Lynch syndrome (LS) comprises tumours with constitutional mutations in DNA mismatch repair genes. There is still a lack of whole-genome and transcriptome studies of LS-CRC to address questions about similarities and differences in mutation and gene expression characteristics between LS-CRC and sporadic CRC, about the molecular heterogeneity of LS-CRC, and about specific mechanisms of LS-CRC genesis linked to dysfunctional mismatch repair in LS colonic mucosa and the possible role of immune editing. Here, we provide a first molecular characterization of LS tumours and of matched tumour-distant reference colonic mucosa based on whole-genome DNA-sequencing and RNA-sequencing analyses.
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