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Query: UMLS:C0699790 (colon cancer)
 28,837 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Conversion of diploidy to haploidy is a method that allows the generation of stable murine/human hybrid cell lines carrying selected human chromosomes in only a single copy. In this setting, it is possible to detect genetic mutations with greater sensitivity and reliability than in diploid cells. Using this method, we were able to identify mutations in the human mismatch repair (MMR) gene hMSH2 in hereditary nonpolyposis colon cancer families, which have escaped detection by the conventional methods. In this report, we show that such hybrid cell lines can also be a valuable tool in the study of the mutated MMR proteins, in particular the variants found in hereditary nonpolyposis colon cancer families that carry missense mutations and where it is unclear whether they predispose to colon cancer. This analysis is made possible by the fact that the human hMSH2 protein is able to complement the MMR defect in the host murine cell line.
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PMID:Phenotypic analysis of hMSH2 mutations in mouse cells carrying human chromosomes. 1169 82

To evaluate the malignant potential of synchronous multiple colorectal cancers, we studied clinicopathologically 31 synchronous multiple colorectal cancers resected at our hospital. We also compared the p53 gene mutation rate, replication error (RER) rate, and Ki-67 antigen positivity rate between these cancers and 90 sporadic colorectal cancers. There was no significant difference in lymphoid and venous invasion, hepatic metastasis, or stage of colon cancer between the two types of cancers. The p53 gene mutation rate was lower in synchronous multiple colorectal cancers (p < 0.05). The RER rate and positivity rate for Ki-67 antigen was significantly higher in these cancers (p < 0.05). These results suggest that some synchronous multiple colorectal cancers result from carcinogenesis in which RER genes are involved, as HNPCC does. In the patients with synchronous multiple colorectal cancers, it is clinically important to follow them carefully focusing on multiple metachronous colorectal cancers and multiple organ cancers.
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PMID:[Alternations of p53 gene, microsatellite instability and proliferation associated antigen Ki-67 in the synchronous multiple colorectal cancers]. 1172 53

The main progress in surgical oncology regarding colonic cancer has been made by standardizing the mode of resection: En block resection of the tumor-bearing colon segment together with the draining lymph nodes, including the lymph nodes at the origin of the respective main vessel, is mandatory. Minimal invasive surgery is an option for resection, however, results of ongoing multicenter trials have to clarify the situation. Adjuvant therapy is used for patients in stage III, who are not included in studies. Since quality of surgery has a major influence on prognosis, this factor also needs to be taken into account when judging the impact of adjuvant therapy. New chemotherapeutic agents have been proven to be valid for palliative and probably also for adjuvant treatment. Prophylactic surgery is routine for patients with ulcerative colitis and FAP, the benefit for patients with HNPCC has to be further evaluated. New knowledge on the individual prognosis might optimize treatment; most probably this will be accomplished by detection of minimal residual disease. The impact of the sentinel node concept in colon cancer is unclear. New progress will be possible by an approach adapted to the individual problem together with accumulating and linking experience and knowledge.
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PMID:[Progress in oncological visceral surgery: colon carcinoma]. 1182 72

The first description of hereditary non polyposis colorectal cancer goes back to Warthin's study in 1895. In 1966 two families with autosomal dominant predisposition to colon and endometrial cancer were found. This condition was defined initially as familial neoplasm syndrome, then Lynch syndrome, and at last hereditary non polyposis colorectal cancer (HNPCC). HNPCC is classically subdivided into Lynch syndrome I (characterized by predisposition to colorectal cancer with early age of onset, to cancer of the proximal colon, and excess of synchronous and metachronous cancer), and Lynch syndrome II (characterized by similar colic phenotype with augmented risk of extracolonic neoplasm). If all clinical characteristics are present, it is possible to suspect HNPCC: however, diagnosis is difficult. Histological and genetic features of colon cancer confirm the diagnosis of HNPCC. Surgical therapy of colic neoplasm is total colectomy. A careful screening of HNPCC family members is one of the cardinal point in prevention. Follow-up of these surgical patients is the same as for sporadic neoplasms.
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PMID:[Hereditary non polyposis colorectal cancer (HNPCC). A clinical and genetic entity]. 1183 61

Recent data have advanced our ability to detect, survey, and manage patients with colonic neoplasia. Current studies and consensus statements increasingly support the role of colonoscopic screening over less invasive testing such as FOBT or FS for appropriately selected individuals. There are many issues, however, that remain unresolved. What is the appropriate surveillance of an individual with a single family member who had colon cancer at an early age? How should family members of suspected HNPCC kindreds be managed? There has yet to be a prospective cohort validation of the Bethesda criteria in directing clinical practice, with the endpoint of mortality reduction. Questions regarding prophylaxis with dietary supplements and medications are exciting areas that are currently under study. As newer technologies become clinically available for molecular diagnostics and screening, and virtual colonoscopy with computed tomography and magnetic resonance disseminates, there will undoubtedly be new questions to be answered regarding their ability to aid in the detection and management of colon cancer.
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PMID:Colon cancer: detection and prevention. 1213 19

Remarkable progress has been accomplished in understanding the molecular basis of genetic colon cancer syndromes including FAP and HNPCC, and their variants; of sporadic colon cancer; and of the rare hamartomatous polyp syndromes. This molecular progress now has to be translated into clinical progress in molecular diagnosis, and in pharmacologic therapy for colonic polyps and cancers. It is hoped that such progress will impact on the frequency and mortality of this very common and frequently fatal cancer.
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PMID:The molecular and genetic basis of colon cancer. 1251 Apr 61

The recognized urologic tumor spectrum in hereditary non-polyposis colon cancer includes ureteral and renal pelvis malignancies. Here, we report a family in which the proband, who had three metachronous adenocarcinomas of the colon and rectum (at ages 54, 57, and 60), presented with an adenocarcinoma of the prostate at age 61. Immunohistochemical (IHC) staining of colonic, rectal, and prostatic tumor tissues demonstrated lack of expression of both MSH2 and MSH6. Accordingly, microsatellite instability (MSI) was found in the rectal, colonic, and prostatic tumors. The kindred complies with the Amsterdam criteria for HNPCC, as five members over three generations had colorectal cancer. Molecular investigations were initiated when the proband's son presented with an adenocarcinoma of the colon at age 35. Southern blotting analysis of genomic DNA led to identification of a novel genomic deletion encompassing exon 5 of the MSH2 gene. Although prostate cancer has occasionally been described in HNPCC families, to the best of our knowledge, this is the first report where the MSI and IHC analysis of the prostatic adenomcarcinoma clearly link its aetiology to the germline mismatch repair mutation. Hence, prostate cancer should be included in the HNPCC tumor spectrum.
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PMID:Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrum. 1291 Apr 97

We sought to determine whether rare cancers indicate an increased risk of inherited cancer susceptibility. We ascertained 77 individuals with rare cancers which occur with increased relative risk in carriers of germline BRCA1/BRCA2 (fallopian, young-onset pancreatic) or HNPCC (biliary, small intestinal, urothelial, gallbladder, young-onset pancreatic) mutations. Individuals with two primary neoplasms (7), or with a first- or two second-degree relatives with breast/ovarian cancer were tested for BRCA1/BRCA2 mutations (18); those with two primary HNPCC cancers or one first degree relative with an HNPCC-related cancer were tested for mutations in MLH1/MSH2 (19). Of these 77 individuals with cancer (19 fallopian, 8 gallbladder, 17 biliary, 17 pancreatic, 11 urothelial, 5 small intestinal), 39 (50.6%) had at least one first degree relative with cancer (excluding lung and skin); two conformed to Bethesda HNPCC criteria. No definitely pathogenic germline MLH1 and MSH2 mutations were found in 19 individuals, although 2 MSH2 variants were detected. A family history of breast/ovarian, HNPCC or colon cancer in a first degree relative was found in 40% of fallopian, 20% of biliary, 35% of pancreatic, 27% of urothelial and 20% of small bowel cancer patients. A BRCA1 frameshift mutation was detected in a woman with fallopian (54 y) and breast (39 y) cancers, and a BRCA2 nonsense mutation in a woman with biliary (48 y) and breast (45 y) cancers. This study supports the premise that the occurrence of rare (especially double primary) cancers does indicate an increased cancer susceptibility, although the numbers of cases ascertained were too small to draw firm conclusions.
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PMID:Does the occurrence of certain rare cancers indicate an inherited cancer susceptibility? 1457 63

The relationship between socio-economic status and health has been consistently reported and is thought to be causal. Socio-economic inequalities are present in the incidence of and mortality from cancer in general, but not in the incidence of colorectal cancer in particular. However, there are socio-economic gradients in mortality from colorectal cancer. The socio-economic distribution of incidence of and mortality from colorectal cancer in individuals with hereditary non-polyposis colon cancer (Lynch syndrome) is not known. It is possible that increased awareness of and access to screening for colorectal cancer amongst this group of individuals reduces the socio-economic gradients seen in the population as a whole. We investigated the relationship between socio-economic status and age of resection of colorectal cancer in a cohort of individuals with hereditary non-polyposis colon cancer. More affluent individuals tended to undergo surgical resection for colorectal cancers earlier in their lives than less affluent individuals. This relationship was bordering on statistical significance. This trend probably represents socio-economic variations in access to treatment. In addition, age based diagnostic criteria for hereditary non-polyposis colon cancer may, inadvertently, accentuate socio-economic inequalities in outcome.
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PMID:Are there socio-economic inequalities in age of resection of colorectal cancer in people with HNPCC? 1470 28

Hereditary colorectal cancer syndromes are classified according to the presence of unusually large number of adenomatous or hamartomatous polyps, or their absence. The latter category includes hereditary non-polyposis colorectal cancer (Lynch syndrome) and its variants Muir-Torre and Turcot's syndromes. Adenomatous polyposis syndromes include familial adenomatous polyposis (FAP) and its variants, and the recently identified MYH- (mutY homolog)-associated polyposis. Hamartomatous polyposis syndromes include juvenile polyposis, Peutz-Jeghers syndrome, and Cowden syndrome, which is now included within the broader category 'PTEN (phosphatase and tensin homolog) hamartoma tumour syndrome'. Other syndromes such as the 'hereditary breast and colon cancer' and 'familial colorectal cancer' are not yet fully characterized. This review addresses the molecular basis of these syndromes with particular reference to the recent advances in this rapidly progressive field and the applications of such knowledge in diagnosis and management.
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PMID:Molecular basis and diagnostics of hereditary colorectal cancers. 1547 12


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