1.Consensus of Chinese experts on clinical detection of molecular markers of colorectal cancer.
Chinese Journal of Gastrointestinal Surgery 2021;24(3):191-197
Colorectal cancer is one of the malignant tumors with the highest morbidity and mortality in China. With the research of precision medicine concept and tumor-related molecular markers, appropriate detection and application of colorectal cancer-related molecular markers has become an important part of current clinical practice. In order to effectively solve the current clinical problems and improve clinicians' understanding and application of molecular markers on colorectal cancer, the Chinese Society of Clinical Oncology(CSCO) Colorectal Cancer Expert Committee organized experts in related fields to write an expert consensus on molecular markers of colorectal cancer based on recent domestic and international clinical trial and clinical experience. The consensus mainly provides guidance on testing specimens, molecular markers and testing methods, and interpretation of testing results. It aims to provide clinicians with standardized clinical reference for diagnosis and treatment, and standard and effective treatment for patients with colorectal cancer.
China
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Colorectal Neoplasms/genetics*
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Consensus
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Humans
2.Recent Advances on the Differences between Left- and Right-sided Colorectal Cancer.
Acta Academiae Medicinae Sinicae 2021;43(6):980-985
Right-sided colon cancer and left-sided colorectal cancer have significant differences in epidemiology,clinical features,tumor differentiation,response to treatment,prognosis,and molecular characteristics.The former has lower prevalence than the latter and is mainly associated with female and elderly patients,with poor tumor differentiation,strong invasion,poor prognosis,and weak response to epidermal growth factor receptor inhibitors.Thus,it is generally believed that the primary location of colorectal cancer is closely associated with prognosis,acting as an independent prognostic factor for therapeutic efficacy.Recent studies have revealed the genetic differences between right-sided colon cancer and left-sided colorectal cancer,providing explanations for the biological differences.This review summarizes the recent advances on the differences between left-and right-sided colorectal cancer.
Aged
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Colorectal Neoplasms/genetics*
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Female
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Humans
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Prognosis
5.Lynch syndrome in a pedigree.
Chinese Journal of Medical Genetics 2017;34(5):775-776
7.Epigenetic research progress in colorectal cancer.
Journal of Central South University(Medical Sciences) 2019;44(7):830-836
Colorectal cancer is one of the common malignant tumors, which seriously threatens human health. Its morbidity and mortality rank the third and the second among all malignant tumors. The progress of colorectal cancer is a complex process involving the accumulation of genetic and epigenetic changes. Epigenetic changes of colorectal cancer mainly include DNA methylation, histone modification, non-coding RNAs (such as microRNAs and lncRNAs), which are of great significance to early diagnosis and prognosis evaluation, and to chemosensitivity assessment for colorectal cancer, providing a new thought for the treatment of colorectal cancer.
Colorectal Neoplasms
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genetics
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DNA Methylation
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Epigenesis, Genetic
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Epigenomics
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Histones
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Humans
9.Genetic and Epigenetic Marker-Based DNA Test of Stool Is a Promising Approach for Colorectal Cancer Screening.
Sung Whan AN ; Nam Kyu KIM ; Hyun Cheol CHUNG
Yonsei Medical Journal 2009;50(3):331-334
Colorectal cancer (CRC) is one of the most common malignancies and leading cause of cancer-related deaths in the world. However, it may be treated effectively by surgical removal of the cancerous tissue if detected at early stages. Conventional tools for screening CRC are either invasive or inaccurate. Therefore, there is an urgent need to develop a reliable screening tools for CRC to significantly reduce its morbidity. In this regard, a novel DNA markers-based detection in stool is emerging as a promising approach.
Colorectal Neoplasms/*diagnosis/*genetics
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Epigenesis, Genetic/*genetics
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*Feces
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Genetic Markers/*genetics
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Tumor Markers, Biological/genetics
10.Mutational studies of adenomatous polyposis coli gene in carcinomas from patients with hereditary non-polyposis colorectal cancers.
Jian HUANG ; Shen-hang JIN ; Shu-zhan ZHANG ; Shu ZHENG
Chinese Journal of Medical Genetics 2003;20(3):196-199
OBJECTIVETo analyze the mutational features of adenomatous polyposis coli (APC) gene and to explore the effect of mismatch repair (MMR) deficiency on its mutations in hereditary non-polyposis colorectal cancers (HNPCC).
METHODSPCR-based in vitro synthesized protein test (IVSP) assay and sequencing analysis were used to confirm somatic mutations of whole APC gene in 19 HNPCC patients.
RESULTSEleven cases with thirteen mutations were determined. The frequency of APC mutation was 58%(11/19). The exhibiting mutations consisted of 9 frameshift mutations and 4 nonsense ones, indicating the existence of more frameshift mutations (69%). All of frameshift mutations were deletion or insertion of 1-2 bp and most of them (7/9) happened at simple nucleotide repeat sequences, particularly within (A) n tracts (5/9). All of four nonsense mutations resulted from C to T transitions at CpG sites.
CONCLUSIONMutational inactivations of APC gene were detected in more than half of HNPCC patients in this study, indicating that APC mutation is a common molecular event in the tumorigenesis of HNPCC. According to the location of frameshift mutations at simple nucleotide repeat sequences and point mutations at CpG sites, it was suggested that endogenous mechanisms like MMR deficiency might exert an effect on the nature of APC mutations in most HNPCC.
Adenomatous Polyposis Coli ; genetics ; Adenomatous Polyposis Coli Protein ; genetics ; metabolism ; Carcinoma ; genetics ; Colorectal Neoplasms ; genetics ; pathology ; Colorectal Neoplasms, Hereditary Nonpolyposis ; genetics ; Genes, APC ; physiology ; Humans