Publications by authors named "Birgit Jeske"
Article Synopsis
- Mononucleotide repeat sequences are highly susceptible to frameshift mutations in tumors with faulty mismatch repair (MMR) genes, specifically MLH1 or MSH2, leading to tumor progression.
- In a study of 31 colorectal cancers with inactivated MLH1, 48.5% showed lost expression of the MSH3 protein, while all expressed MSH6, indicating a significant link between MSH3 loss and higher rates of frameshift mutations.
- Tumors lacking MSH3 expression correlated with more advanced disease stages (Dukes stage C and D), suggesting its absence could predict metastatic potential in MLH1-deficient colorectal cancers.
Germline mutations in mismatch repair genes are responsible for hereditary nonpolyposis colorectal cancer (HNPCC), the most common hereditary cancer-susceptibility syndrome. We report six novel germline mutations, three in MSH2 and three in MLH1. All but one mutation have been found in families fulfilling the criteria of the Bethesda guidelines; two of them additionally fulfilled the Amsterdam criteria.
View Article and Find Full Text PDFHereditary nonpolyposis colorectal cancer (HNPCC) is the most frequent hereditary form of colorectal cancer and is caused by germline mutations in mismatch repair (MMR) genes. The majority of mutations occur in MLH1 and MSH2. We report hereby seven novel germline mutations in these two genes (five in MLH1 and two in MSH2).
View Article and Find Full Text PDF