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

Clinical and histological characteristics of non polypoid colorectal cancers with an hereditary predisposition are presented. The various known genetic syndromes (hereditary non polyposis colorectal cancers, Lynch syndrome type I and type II, Torre-Muir's syndrome, hereditary flat adenoma syndrome) are discussed to find a possible correlation between this nosological classification and their molecular substratum. The main problem today, is to correctly define the population of hereditary predisposed patients to colon cancer, in order to seek and identify the major responsible gene. Any physician, specialist or not, should be encouraged to give the details of the cancer familial context of his patients, in order to aid the oncologist geneticist in his task.
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PMID:[Criteria of genetic predisposition to hereditary non polyposis colorectal cancers]. 794 88

The international collaborative group on HNPCC (ICG-HNPCC) was established in 1989. The original aims of the group were: (1) to develop minimal criteria for the identification of HNPCC, to provide a basis for uniformity in collaborative studies; (2) to improve patient and physician education about HNPCC; (3) to establish international collaborative studies, and (4) to promote the establishment of national (or regional) HNPCC registries. The administrative base of the group is attached to the Netherlands Foundation for the Detection of Hereditary Tumours at Leiden. The Netherlands. An International Informational Center on HNPCC was established at Creighton University in Omaha. The Hereditary Colon Cancer Newsletter (previously the Polyposis Newsletter) serves as a medium for communication about activities of the Group. At present, the Group has about 70 members from 23 countries, and its meetings are held annually. After a period of five years, it can be concluded that the objectives of the ICG-HNPCC have been successfully accomplished. The existence of the ICG-HNPCC has contributed to an increase in awareness of HNPCC among specialists throughout the world. Due to the rapid developments in molecular genetics in HNPCC, it seems very likely that HNPCC will be the first common hereditary cancer syndrome, which can be identified by simple blood DNA tests. The value of the ICG-HNPCC will be extremely important in finding a uniform answer to the question how to utilize DNA technology for the benefit of the human race.
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PMID:The International Collaborative Group on HNPCC. 797 4

Ten gastric carcinomas were studied for loss of heterozygosity by analysis of 21 microsatellite markers from 14 different chromosomes. Four patients had a family history of gastro-intestinal cancer, and six tumours were considered sporadic. We also studied a new mechanism in tumourigenesis recently reported in hereditary non polyposis colon cancer, a defect in mismatch repair that is seen as gain of new bands by the use of dinucleotide repeat markers. Loss of heterozygosity was detected with two markers in one primary tumour and with the majority of markers in one metastasis from a sporadic gastric tumour. Gain of microsatellite bands was seen in one tumour from a gene carrier in a family with hereditary non-polyposis colon cancer and in one sporadic tumour. Two tumours from patients with a family history of gastric cancer showed no rearrangements. Our results suggest that different types of genes are involved in initiation and progression of gastric cancer in sporadic and familial gastric cancer.
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PMID:Genetic rearrangements in sporadic and familial gastric carcinomas detected with microsatellite markers. 799 19

Genomic instability at simple repeated sequences (SRS) is a landmark for some sporadic and hereditary cancers of the colon. We have identified several human tumour cell lines with up to 1,000-fold increases in mutation rates for endogenous microsatellite sequences, relative to normal cells or tumour cells without the mutator phenotype and show that they are very early events in tumorigenesis. Our in vivo and in vitro results show that the genomic instability persists after transformation and that microsatellite mutations accumulate as consecutive somatic slippage events of a single or a few repeated units. This mechanism may account for the repeat expansions in triplet hereditary diseases and the same defect in replication fidelity in non-polyposis colon cancer could also contribute to the non-mendelian anticipation in these diseases.
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PMID:Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. 801 90

Hereditary nonpolyposis colorectal cancer (HNPCC) represents the most common form of genetic predisposition to colon cancer. Even in kindreds with several affected members it is, however, difficult to rule out chance clustering and other nonhereditary factors since colon cancer is so common in the general population. Similarly, it is impossible to distinguish individual patients with HNPCC from sporadic cases on clinical grounds since neither have polyposis or other specific physical signs. The localization of an HNPCC gene on chromosome 2 in May 1993 provided formal proof that HNPCC is a single gene (Mendelian) disorder. Instability at short tandem repeat sequences (microsatellites) was found to characterize HNPCC tumours. Positional and functional cloning strategies resulted in the identification of the HNPCC gene in December 1993. Interspecies homology suggests that the gene, hMSH2, functions in DNA mismatch repair. These findings provide a theoretical basis as well as practical tools to detect susceptibility to HNPCC cancers.
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PMID:Genetic basis of hereditary nonpolyposis colorectal carcinoma (HNPCC). 807 40

The human DNA mismatch repair gene homologue hMSH2, on chromosome 2p is involved in hereditary non-polyposis colon cancer (HNPCC). On the basis of linkage data, a second HNPCC locus was assigned to chromosome 3p21-23 (ref. 3). Here we report that a human gene encoding a protein, hMLH1 (human MutL homologue), homologous to the bacterial DNA mismatch repair protein MutL, is located on human chromosome 3p21.3-23. We propose that hMLH1 is the HNPCC gene located on 3p because of the similarity of the hMLH1 gene product to the yeast DNA mismatch repair protein, MLH1, the coincident location of the hMLH1 gene and the HNPCC locus on chromosome 3, and hMLH1 missense mutations in affected individuals from a chromosome 3-linked HNPCC family.
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PMID:Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. 814 27

Cases of familial polyposis coli and Peutz-Jeghers syndrome are reported for the first time in Ethiopia. One case seemed to have the defect as a new mutation in his gene while the other possibly inherited from his father. The one with polyposis coli had transmitted the disease to his offspring. This patient had total colectomy for prophylaxis against a potential carcinoma of the colon.
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PMID:Familial polyposis in two Ethiopians. 818 81

Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. We studied two families that both presented a phenotype different than that of the classical form of FAP. The most important findings observed in these two kindreds are (a) low and variable number of colonic polyps (from 5 to 100) and (b) a slower evolution of the disease, with colon cancer occurring at a more advanced age than in FAP in spite of the early onset of intestinal manifestations. To determine whether mutations of the APC gene are also responsible for this variant syndrome, linkage studies were performed by using a series of markers both intragenic and tightly linked to the APC gene. The results provide evidence for exclusion of the APC gene as the cause of the variant form of polyposis present in the two families described.
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PMID:Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP) 803 18

Juvenile Polyposis (JP) is a rare disease that may be found anywhere within the gastrointestinal tract, almost most cases so far reported have involved the colon. It is a precancerous condition, with the subsequently developing carcinomas so far also being found almost exclusively in the colon. A familial form is found in 20 to 50% of the cases. The present paper describes a family in whom three members of the second generation developed massive JP in the stomach requiring partial resection of the stomach or gastrectomy. Three members of the first generation died of carcinoma of the stomach and a forth of carcinoma of the colon. A male member of the second generation was treated at the age of 38 years for a carcinoma of the colon; 16 years later, he underwent resection of the stomach for juvenile polyposis and the histological work-up of the surgical specimen revealed in addition, areas of dysplasia and early carcinomas restricted to the mucosa.
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PMID:[Familial juvenile polyposis with predominant stomach involvement]. 823 87

Use of the biofragmentable anastomosis ring (BAR) was attempted in 33 patients at two New York City institutions and employed in 31 instances. Anastomoses performed were end-to-end enterocolic (n = 15), colocolic (n = 15), and side-to-side colocolic (n = 1). Patients ranged in age from 27 to 86 years, with the following diagnoses: primary colon cancer, 15; sessile adenoma, four; colostomy, five; diverticulosis, two; metastatic cancer with obstruction, multiple polyposis, perforated appendiceal mass, malignant carcinoid of appendix, intussuscepting right colon mass, one each. In two instances use of the device was aborted because of concern with the blood supply to the bowel wall in one and tissue edema in another. The average duration of postoperative ileus was 4.7 days. Two patients were subsequently treated for small bowel obstruction thought unrelated to use of the anastomotic device. There were no deaths and no evidence of stricture.
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PMID:Murphy's Button revisited. Clinical experience with the biofragmentable anastomotic ring. 842 5


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