Publications by authors named "Yan-Ying Zheng"
Introduction: Recently, genes involved in homologous recombination repair (HRR) pathway have been extensively studied. However, the landscapes of HRR gene mutations remain poorly defined in Chinese high-risk breast cancer (BC) patients. Our study aims to identify the status of germline and somatic HRR gene mutations and their association with clinicopathological features in these patients.
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- Lynch-like syndrome (LLS) refers to colorectal cancers (CRC) that show microsatellite instability (MSI) or mismatch repair-deficiency (dMMR) but lack detectable germline mutations related to mismatch repair (MMR) genes.
- In a study involving 404 CRC patients in China, it was found that a significant proportion (66.6%) of MMR-deficient tumors were classified as LLS, and these tumors were diagnosed at an average age of 60.7 years, often with aggressive features like lymph node metastases (50%).
- The research uncovered that most MMR gene mutations in LLS were variants of unknown significance, and two new mutations in genes ATM and ARID1A were identified, highlighting the
Background: Colorectal cancer is one of the most common tumors with high mortality in China. Microsatellite instability (MSI) analysis is important for the diagnosis of hereditary non-polyposis colorectal cancer (HNPCC) and for the prediction of 5-FU chemotherapy efficiency of colorectal tumors, especially in terms of therapeutic response and overall survival rates. Among the MSI markers recommended by the NIH/NCI, BAT-25 has been extensively studied for its major role in MSI.
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