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

In summary, we have presented a large Canadian kindred exhibiting hereditary large bowel cancer, without polyposis coli, transmitted in an autosomal dominant fashion (Hereditary Site-Specific Colon Cancer). This series serves to emphasize the heritable nature of this and other malignant conditions and the importance of so fundamental a concept as the taking of a complete family history in the identification and management of these conditions. Looking to the future, the reduction of morbidity and mortality from Hereditary Site-Specific Colon Cancer lies in the education of the family and genetic counselling, both commencing in the mid teens the education of physicians and surgeons in the very considerable risk of malignancy in this condition the surveillance of asymptomatic family members including such measures as stool testing for occult blood six monthly augmented by air contrast barium enema and/or colonoscopy at two yearly intervals, commencing at age 25 the creation of national and international registries the identification of reliable biomarkers. We are indeed fortunate to live in a age when technology holds promise for the identification of the oncogenes operative in this and other heritable malignancies. This is the subject of ongoing collaboration between us and our molecular biology colleagues at Memorial University in St. John's and exemplifies, I believe, the very best in the cooperative spirit which may exist between a community hospital and a larger teaching centre.
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PMID:Hereditary site-specific colon cancer in a Canadian kindred. 136 93

Familial infiltrative fibromatosis (desmoid tumor) is a recognized complication of familial adenomatous polyposis (FAP) but has not been described in families without colonic polyposis. The authors describe a unique family in which a predisposition to infiltrative fibromatosis and nonpolyposis colon cancer was inherited dominantly through four generations. This report expands the range of phenotypic variation described for the hereditary nonpolyposis colon cancer (HNPCC) syndrome and adds to the extracolonic complications that are common with FAP and HNPCC.
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PMID:Phenotypic variation in hereditary nonpolyposis colon cancer syndrome. Association with infiltrative fibromatosis (desmoid tumor). 154 13

Familial polyposis coli (FPC) is hereditary condition that conveys a virtual 100% risk for the development of colon cancer in the untreated patient. A total of 56 patients with FPC underwent complete ophthalmic examination. Highly pleomorphic pigmented retinal lesions were identified bilaterally in 52% (n = 29) and unilaterally in 14% (n = 8) of our subjects. In all, 33 patients had one or more extracolonic expressions associated with FPC, including desmoids, osteomas, epidermoid cysts, lipomas, fibromas, and upper gastrointestinal tract polyps. In 15 patients, pigmented fundus lesions were the only extracolonic manifestations. No significant association between eye findings and other extracolonic manifestations could be established. The presence or absence of pigmented fundus lesions was found to cluster within families. Pigmented fundus lesions are probably a variably penetrant expression of the polyposis gene and do not appear to be specifically associated with subgroups of inherited polyposis syndromes such as Gardner's syndrome.
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PMID:Familial polyposis coli: the spectrum of ocular and other extracolonic manifestations. 165 Dec 77

Thirty-eight patients with multiple carcinomas of large bowel were encountered during 32 years period in our hospital. The incidence of synchronous carcinomas (SC) was 1.5% (22/1430) and metachronous carcinomas (MC) 1.1% (16/1430). Thirty-one patients were found to have two primary carcinomas and seven patients have three primary malignancies. Among the 38 patients, six also had cancers in ether organs. The authors discussed the diagnosis, tumor distribution, the cancer association with familial colonic polyposis, and hereditary colon cancer. The 5 years survival rate with SC treated by surgery was 35.7% (5/14), and was 93% (15/16) with MC. It is the authors' opinion that surgical resection should always be attempted in patients with SC and MC.
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PMID:[Multiple carcinomas of large bowel]. 166 16

The concept of multistage carcinogenesis is one of the central dogmas of cancer research today. Recent laboratory work suggests that many specific genetic changes are associated with carcinogenesis. At the same time, there is increasing evidence that cell proliferation kinetics are important in carcinogenesis. In 1971, Knudson proposed his now celebrated two-mutation model for embryonal tumors. In fact, a two-mutation model that explicitly considers cell kinetics is the most parsimonious model consistent with the incidence of both childhood and adult cancer in human populations. This model has been known to be consistent, as well, with other epidemiologic and experimental data. But can such a model be reconciled with the laboratory evidence suggesting that many genetic alterations are required for malignant transformation? In this paper, I examine multistage carcinogenesis from the population perspective. Can cancer incidence data in populations provide some insight into the number and nature of stages involved in malignant transformation? I focus attention on carcinoma of the colon because of the considerable amount of information that is now available on the genetics of these tumors. Also, as is the case with retinoblastoma, colon cancer occurs in sporadic and dominantly inherited forms. A comparison of the incidence of these two forms of colon cancer suggests that mutation at the familial adenomatous polyposis (FAP) locus is not necessary for colon cancer, and that inheritance of the gene for FAP is not equivalent to inheriting one of the essential steps on the pathway to colon cancer. Thus, colon cancer does not follow the retinoblastoma paradigm. The incidence of colon cancer in the general population and among polyposis subjects is consistent with two or three mutations on the pathway to malignancy. A three-mutation model is more consistent with the genetic alterations observed in colon carcinogenesis. I present and discuss a working model for colon cancer.
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PMID:A population perspective on multistage carcinogenesis. 166 93

Tumor-associated trypsin inhibitor (TATI) was assayed in serum of patients with gastroenterological diseases. Of the patients 92 had gastric cancer, 50 colonic cancer, 38 colitis, 36 polyposis of the colon, and 40 gastric ulcer. The cut-off level established on the basis of the mean concentration +3 SD of a reference population comprising 120 subjects was 32 micrograms/l. In gastric cancer TATI had a sensitivity and specificity similar to that of CA19-9, whereas its behavior in colon cancer was less satisfactory. Like other tumor markers TATI may be elevated in patients with inflammatory diseases. In our opinion TATI is a good tumor marker for gastric cancer and it is a useful complement to CEA and CA19-9.
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PMID:Tumor-associated trypsin inhibitor, TATI, in gastrointestinal cancer and related benign diseases. 178 Jun 97

Five cases of hereditary site-specific colon cancer (HSSCC or Lynch syndrome I) from two families are reported. The main features of HSSCC are: an autosomal dominant model of heredity, the absence of associated polyposis, the average age being younger, vulnerable site being the right colon (4/5 cases), multiple colon cancers (3/5 cases) and long survival. These 5 cases possessed the above mentioned features. Having no special detection method, the authors suggest that the members of these families be registered and the high risk members regularly checked.
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PMID:[Hereditary site-specific colon cancer--report of two families]. 216 22

Attempts have been made to use enzyme assays primarily in tissue, to predict risk of colon cancer in high risk colon cancer families, and in patients with polyposis. Efforts have also been made to predict recurrence in surgically "cured" cancer patients. The use of thymidine kinase, ornithine decarboxylase, LDH isoenzymes, and other enzymes for these purposes will be reviewed.
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PMID:Enzymes used in predicting high risk to colon cancer. 217 52

Familial aggregations of defined malignancies are of great importance for determining the genetic factors involved, as has been demonstrated for familial and sporadic retinoblastoma. In nearly all organs, neoplasms occur that are inherited similar to familial retinoblastoma (Rb). For example, more than 5% of all women suffering from breast cancer belong to breast cancer families in which the occurrence of the malignancy suggests an autosomal dominant pattern of inheritance. Familial colon cancer is associated with several well-known autosomal dominantly inherited polyposis syndromes, and also other susceptibilities without obvious clinical features. Site-specific cancers are often accompanied by other malignancies. In addition, there seem to be predispositions to a wider range of different, but well-defined neoplasms: e.g., adenocarcinomatosis of the colon and the endometrium, or the Li-Fraumeni/SBLA syndrome. The latter shows a spectrum of sarcoma, brain tumours, breast cancer, leukaemias, lung and adenocortical cancer. The genes leading to these types of dominantly inherited predispositions appear to be the tentatively so-called tumour suppressor genes, for which the Rb gene serves as a model. It manifests itself recessively on the level of the individual cell, which means both alleles must be deleted or inactivated before a retinoblast develops into a neoplastic cell. Clinical, epidemiological and molecular genetic studies have yet to establish whether the Rb model can be extended to all other forms of dominantly inherited human cancers.
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PMID:Dominant inheritance in human cancer. 219 May 28

Heritable and genetic factors pertinent to colon cancer can be divided into three categories: inherited syndromes, genetic epidemiology, and molecular genetics. Familial adenomatous polyposis (FAP) and Gardner syndrome (GS) are rare dominantly inherited syndromes characterized by hundreds to thousands of colonic adenomatous polyps. Colon cancer occurs at a young age in both diseases unless the colon is removed. Peutz-Jeghers syndrome and familial juvenile polyposis are inherited hamartomatous polyposis conditions with a less dramatic, but definite, increased risk for colon cancer. These four polyposis syndromes together account for less than 1% of cases of colon malignancy. Hereditary nonpolyposis colorectal cancer is a dominantly inherited form of colon cancer characterized by an early age of onset and a predilection for proximal colonic tumours. Multiple primary malignancies are frequently observed and one or several adenomatous polyps are often present in affected individuals; 4-6% of colon cancer cases occur in relationship to this syndrome. Genetic epidemiological studies have consistently shown that first-degree relatives of persons with colon cancer have a twofold to threefold increased risk of having colon malignancy. More recent studies have found a similar risk among relatives of those with adenomatous polyps. Studies of colon cancer and adenomatous polyps in pedigrees have further demonstrated that this familial clustering probably occurs on the basis of partially penetrant inherited susceptibilities. These inherited susceptibilities probably interact with environmental factors to give rise to polyp growth and finally colon cancer. Molecular studies have begun to elucidate the genetic mechanisms of colon cancer at the DNA level. The germinal mutation of FAP and GS has been localized to the long arm of chromosome 5. Tissue samples from "random" adenomatous polyps and colon cancers have shown frequent and specific acquired DNA sequence deletions on chromosomes 5, 17, and 18. Mutations and over-expression of the ras oncogene likewise have been observed in such tissues. The chromosome 5 defect in polyp and cancer tissues is probably at the same locus as the germinal mutation of FAP. There is evidence that this locus normally regulates expression of the c-myc oncogene, which in turn probably has a regulatory function in DNA replication. The chromosome 17 deletion is a mutation of the gene for the transformation-associated protein, p53. Appropriate screening starting at a relatively young age is necessary to prevent cancer in the inherited syndromes. Screening is also indicated in close relatives of those with nonsyndromic or common colon cancer in view of the moderately increased risk for colon cancer in this group.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer. 228 1


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