Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0009402 (colorectal cancer)
 53,228 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Adenomatous polyps are an intermediate in the pathway to colon carcinoma. An inherited disorder, familial adenomatous polyposis coli (APC), is characterized by hundreds to thousands of adenomatous polyps. A previously reported family had colon cancer associated with a low average but highly heterogenous number of colonic polyps, this phenotype mapped to the APC locus on 5q. Four new families have been ascertained in which the phenotypic pattern was different from classical polyposis but similar to that of the "prototype" kindred reported earlier. By multilocus linkage analysis, the gene responsible for the disease phenotype was mapped, with a high level of confidence, to the APC locus in two of the four families with the attenuated or variant form of polyposis (AAPC); the results for the two remaining kindreds were inconclusive. A combined maximum LOD score of approximately 7.6 at a recombination fraction of 0 was obtained when the results were summed over the four pedigrees with markers closest to the APC locus. The establishment of genetic linkage in such families may point to the APC locus as having a more significant role in inherited predispositions to colorectal cancer than was previously thought.
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PMID:Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus. 131 15

Familial polyposis coli (FAP) presents multiple adenomas in the large bowel. Also, polyps in the upper gastrointestinal tract are observed in some cases of FAP. Since the risk of developing colorectal cancer is almost 100% in FAP, patients need surgical treatment (colectomy) after a diagnosis of FAP is made. After a gene for FAP (APC gene) was identified, an accurate diagnosis of FAP is becoming possible by examining APC gene, even though patients show no clinical manifestations. Many studies revealed various mutations of APC gene and examined the relation between the site of the germline APC mutation and the phenotypic expression of FAP. These studies suggested that there was a Genotype-Phenotype Correlation in FAP. Some differences of clinical features in FAP, such as profuse type and attenuated type of FAP (AAPC), are now considered to be caused by the difference of the site of the germline APC mutation.
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PMID:[Familial polyposis coli]. 853 33

Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations within this gene have been described (Beroud and Soussi, 1996). Of these, about 95% are chain-terminating mutations, and more than 60% have been localized within exon 15 (Nagase and Nakamura, 1993, Beroud and Soussi, 1996). Using polymerase chain reaction-single strand conformation polymorphism, protein truncation test (PTT) and DNA sequencing we have identified five new frameshift mutations (2523insCTTA, 2638delA, 2803insA, 3185delAA, 4145delTCATGT), all occurring within exon 15 and giving rise to truncated protein products. Two of these new mutations are of particular interest because of the unusual phenotypic features shown by probands. The phenotype of the proband bearing the 2523insCTTA mutation at codon 842 was very aggressive with onset of the symptoms at 12 years, while the patient bearing the 3185delAA mutation at codon 1062 exhibited features of an attenuated form of FAP (AAPC). Our data reiterate the great heterogeneity of the mutational spectrum in FAP that gives rise to an extreme variability of the clinical expression.
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PMID:Familial adenomatous polyposis coli: five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients. Mutations in brief no. 225. Online. 1009 Apr 83

Multiple primary cancers occurring in the same patients have been reported to represent 1.8-3.9% of all cancers. The majority of all patients reported to have had a combination of simultaneous neoplastic changes in the ampulla of Vater and the colon showed familial adenomatous polyposis (FAP) syndrome. Variants of familial adenomatous polyposis coli are: attenuated adenomatous polyposis coli (AAPC, previously also known as flat adenoma syndrome) and multiple adenoma coli. AAPC is characterized clinically by many, but usually fewer than 100, colonic lesions that are characteristically slightly elevated and plaque-like, with a reddish surface and sometimes central depression. Genetically it represents an extremely rare variant of FAP. Another group of individuals, so-called multiple adenoma patients, have a phenotype similar to AAPC, but most have no demonstrable germ-line adenomatous polyposis coli mutation, as do patients with FAP or AAPC. However, there have been only a few reports that discussed concurrent neoplastic changes in the ampulla of Vater and colon in patients with multiple colonic flat adenomas, but without the florid phenotype of classical FAP. We present rare clinical course of a patient with multiple (more than 60) flat adenomas in the proximal colon and two primary cancers: of the ampulla of Vater and of the ascending colon. This patient and his family history did not show polyposis compatible with FAP or hereditary nonpolyposis colorectal cancer (HNPCC) syndrome.
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PMID:Synchronous primary carcinomas of the ampulla of Vater and ascending colon in a patient with multiple flat adenomas. 1471 59

The aim of the study was an analysis of mortality trends due to malignant neoplasms in Poland. The study material was a database, consisting of 1,367,364 death certificates of inhabitants of Poland who died during the period 2000-2014 due to malignant cancer. To calculate years of life lost, the SEYLLp index (Standard Expected Years of Life Lost per living person) was applied. We also calculated AAPC (Average Annual Percentage Change). The SEYLLp index (per 10,000 population) due to malignant neoplasms in Poland in males decreased from 586.3 in 2000 to 575.5 in 2014, whereas in females it increased from 398.6 in 2000 to 418.3 in 2014. The greatest number of lost years of life in 2014 was attributed to lung cancer (174.7 per 10,000 males and 77.3 per 10,000 females), breast cancer in females (64.5) and colorectal cancer in males (39.0). The most negative trends were observed for lung cancer in females (AAPC = 3.5%) and for colorectal cancer (AAPC = 1.8%) and prostate cancer (AAPC = 1.6%) in males. Many lost years could have been prevented by including a greater number of Polish inhabitants in screening examinations, mostly targeted at malignant neoplasm, whose incidence is closely connected with modifiable risk factors.
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PMID:Standard Expected Years of Life Lost Due to Malignant Neoplasms in Poland, 2000-2014. 3181 61