Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0699790 (colon cancer)
 28,837 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Although only a small proportion of common cancers show familial aggregation, studying such families can elucidate the roles of shared environment and genes in the development of neoplasia. We report an analysis of nine colon cancer pedigrees using new nonparametric objective methods to measure familial aggregation as a means of determining the existence of heterogeneity in the data. Each family was selected through a proband with nonpolyposis colon cancer who had a first-degree relative with documented colon cancer. To assess the aggregation of different cancers in these families we employ a method which evaluates both excess number of cases as well as distribution by risk in family members. We find that eight of the nine families exhibit significant aggregation of colon cancer: endometrial cancer aggregates in three families, breast in none, kidney in one, and all sites in eight. In this way, we show that two families fit the criteria for Cancer Family Syndrome, and that one is not a high-risk cancer family.
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PMID:Aggregation of colon cancer in family data. 654 32

The genetic understanding of colon cancer susceptibility is advancing very rapidly; it has already had a major impact on clinical management, and we have only seen the beginning. Genes responsible for the two well-defined familial colon cancer syndromes (APC and HNPCC) have been identified. These syndromes can now often be diagnosed by genetic rather than by endoscopic screening of the at-risk individuals in a family. Linkage analysis, although clinically cumbersome, can be performed for families with both APC and HNPCC. In some families, the mutation itself can be determined and a specific mutation assay can be used in the other at-risk members of the family. Both linkage analysis and mutational assays are still largely performed in specialized high-risk cancer clinics. For APC, a truncated protein assay performed on cells isolated from peripheral blood is now commercially available, so the genetic diagnosis of APC can be made by any clinician. It is important, however, to be able to provide appropriate genetic counseling to families before and after genetic testing for these familial colon cancer syndromes. The familial clustering of "sporadic" colon cancer has been suggested to be due to the inheritance of a susceptibility gene or genes. A family history of colon cancer has become an important stratification criteria for colon cancer screening programs. Colonoscopic screening is indicated for individuals with two or more FDRs with colon cancer or with one FDR in whom colon cancer developed under the age of 50 or so. If specific susceptibility genes for sporadic colon cancer are identified, it will be possible to target powerful primary preventive and screening programs to this high-risk population (susceptibility gene carriers).
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PMID:The genetic basis of colorectal cancer risk. 890 98

Colorectal cancer (CRC) represents a major public health problem accounting for > 1 million cases of new cancers and about half a million deaths worldwide. The risk of recurrence remains high despite curative surgery in early disease stages. The incremental benefit in absolute recurrence-free survival from 5-fluorouracil (5-FU)-based regimens in young patients with high-risk colon cancer is not insignificant. We present a case of a 57-year-old otherwise healthy white man who was treated with adjuvant chemotherapy consisting of modified 5-FU/leucovorin/oxaliplatin (FOLFOX6) regimen for stage III colon cancer. He experienced significant cardiotoxicity related to infusional 5-FU. Because of his young age and high-risk cancer, the patient opted to continue with adjuvant bolus 5-FU-containing chemotherapy after a lengthy discussion. With close cardiac monitoring and treatment with calcium channel blocker to prevent coronary vasospasm, he was able to successfully complete adjuvant chemotherapy. Currently, there are no guidelines for predicting a patient's risk for 5-FU-induced cardiotoxicity. Similarly, there is no uniform management of this 5-FU-related induced cardiotoxicity. We believe that our case report, with a brief review of related literature, might help fill some of this vacuum.
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PMID:Coronary vasospasm with myocardial stunning in a patient with colon cancer receiving adjuvant chemotherapy with FOLFOX regimen. 1920 98

HOXB13 p.Gly84Glu is recognized as a rare variant associated with increased risk for prostate cancer; risk association for other cancers is uncertain. This HOXB13 variant was originally reported in several 3-generation prostate cancer pedigrees and has been reported to be associated with increased risk for bladder and colorectal cancer and leukemia in GWAS. A HOXB13 pGly84Glu variant carrier was identified in a set of Utah individuals born more than 100 years ago who were members of high-risk cancer pedigrees. The proband carrier was diagnosed with colon cancer and is a member of a high-risk prostate cancer pedigree. The HOXB13 pGLY84Glu variant was assayed in other sampled relatives in the pedigree and was observed to segregate in relatives of the proband carrier in the extended pedigree; this pedigree showed significant excess of prostate cancer, cervical cancer, leukemia, colorectal cancer, and gastric cancer among descendants. Multiple additional variant carriers were identified, diagnosed with prostate, bladder, and colon cancers in the 5-generation high-risk cancer pedigree. This study shows the power and efficiency of a biorepository of samples with known genealogy from extended high-risk pedigrees for definition of cancer-associated risks. Association of HOXB13 p.Gly84Glu with risk of colon and bladder cancers in this extended pedigree confirms previous reports for risk association for both cancers.
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PMID:The HOXB13 p.Gly84Glu variant observed in an extended five generation high-risk prostate cancer pedigree supports risk association for multiple cancer sites. 3309 13