Publications by authors named "N Buerki"
Background: We estimated the cost-effectiveness of universal DNA screening for Lynch syndrome (LS) among newly diagnosed patients with colorectal cancer (CRC) followed by cascade screening of relatives from the Swiss healthcare system perspective.
Methods: We integrated decision trees with Markov models to calculate incremental cost per quality-adjusted life-year saved by screening all patients with CRC (alternative strategy) compared with CRC tumour-based testing followed by DNA sequencing (current strategy).
Results: The alternative strategy has an incremental cost-effectiveness ratio of CHF65 058 compared with the current strategy, which is cost-effective according to Swiss standards.
Background: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management.
View Article and Find Full Text PDFEvidence for breast cancer as an integral part of Lynch syndrome.
Genes Chromosomes Cancer
January 2012
Article Synopsis
- Lynch syndrome is a hereditary cancer condition linked to mutations in MMR genes, particularly MLH1 and MSH2, leading to increased risk primarily for gastrointestinal, endometrial, and ovarian cancers.
- The study examined the association between breast cancer and Lynch syndrome by analyzing clinical data and molecular characteristics in Swiss female mutation carriers, focusing on signs of MMR deficiency in breast cancer specimens.
- While endometrial and ovarian cancers were more common and diagnosed at younger ages in mutation carriers, the breast cancer incidence in these women was similar to the general Swiss population; however, many breast cancer samples showed MMR-related defects, suggesting a potential link between MMR deficiency and breast cancer in Lynch syndrome.
It has recently been reported that high concentrations of circulating cell-free (ccf) nucleic acids in plasma and serum could be used as biomarkers for non-invasive monitoring a wide variety of malignant and benign proliferations and inflammatory conditions. Endometriosis is one of the most common benign gynaecological proliferations with inflammatory activation in premenopausal women. Real-time multiplex polymerase chain reaction was used for synchronized quantification of the glyceraldehyde-3-phosphate dehydrogenase gene sequence in nuclear DNA (nDNA) and the ATP synthase-8 gene sequence in mitochondrial DNA (mtDNA).
View Article and Find Full Text PDFObjective: To analyze the levels of circulating cell-free nuclear DNA and circulating cell-free mitochondrial DNA in patients with benign and malignant ovarian tumors using a gold-standard assay and to investigate whether quantitative alterations of the circulating cell-free species have values in the management of the patients.
Methods: One hundred four patients were recruited for this study. We developed a quantitative, multiplex polymerase chain reaction to measure the levels of circulating cell-free nuclear DNA and circulating cell-free mitochondrial DNA in serum and plasma of patients with epithelial ovarian cancer, benign epithelial ovarian tumors, or endometriosis.