Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033036 (APC)
 10,214 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gastric cancer and colorectal cancer are two common malignant tumors in digestive tract. 1% to 3% of gastric cancer and 5% to 15% of colorectal cancer are definitely hereditary cancer caused by germline gene mutation. Hereditary gastric cancer includes hereditary diffuse gastric cancer(HDGC) and hereditary intestinal gastric cancer (HIGC). CDH1 gene mutation is the main reason to cause HDGC, so the first degree and the second degree family members of HDGC patients are recommended to receive CDH1 mutation detection, endoscopic examination every year and undergo preventive total gastrectomy. Hereditary colorectal cancer includes hereditary nonpolyposis colorectal cancer (HNPCC, or Lynch syndrome) and familial adenomatous polyposis (FAP). Germline MMR gene mutation detection is the golden standard of the diagnosis of Lynch syndrome. Family members of Lynch syndrome patients are recommended to receive endoscopic examination every year and undergo standard cancer radical operation or total colorectal resection based on individual conditions. FAP is caused by APC gene mutation, so FAP patients are recommended to receive endoscopic examination once or twice every year through their lifetime, while a lot of adenoma occur, resection should be considered. The promotion key of hereditary gastrointestinal neoplasms research is to follow the standard diagnosis and treatment guideline for hereditary gastrointestinal neoplasms and build the clinical and gene information bank of hereditary gastrointestinal neoplasms. The second generation sequencing technique provides favorable research stools in elucidating pathogenesis mechanism of hereditary gastrointestinal neoplasms.
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PMID:[Current status of hereditary gastrointestinal neoplasms]. 2917 89

Hereditary factors are assumed to play a role in ~35.0-45.0% of all colorectal cancers (CRCs) with about 5.0-10.0% associated with high penetrant disease-causing mutations in genes correlated to hereditary polyposis (HP) or hereditary non polyposis syndromes (HNPCC). Although inherited germline mutations in mismatch repair (MMR) and the APC genes contribute significantly to CRC, genetic diagnosis cannot yet be obtained in more than 50.0% of familial cases. We present updated data of 107 probands from the Macedonian population with clinically diagnosed HP (n = 41) or HNPCC (n = 66) obtained by next generation sequencing (NGS) with three different gene panels covering the coding, flanking and promoter regions of 114 cancer predisposition genes. Using this approach, we were able to detect deleterious mutations in 65/107 (60.7%) patients, 50.4% of which were in known well-established CRC susceptibility genes and 10.2% in DNA repair genes (DRG). As expected, the highest frequencies of deleterious variants were detected in familial adenomatous polyposis (FAP) and in HNPCC patients with microsatellite instability (MSI) tumors (93.8 and 87.1%, respectively). Variants of unknown significance (VUS) were detected in 24/107 (22.4%) patients, mainly in HNPCC patients with microsatellite stable (MSS) tumors or patients with oligopolyposis. The majority of VUS were also found in DRG genes, indicating the potential role of a doble-strand brake DNA repair pathway deficiency in colorectal cancerogenesis. We could not detect any variant in 18/107 (16.8%) patients, which supports the genetic heterogeneity of hereditary CRC, particularly in HNPCC families with MSS tumors and in families with oligopolyposis.
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PMID:Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update. 3194 11


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