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Items: 20

1.

Ellagic Acid

A fused four ring compound occurring free or combined in galls. Isolated from the kino of Eucalyptus maculata Hook and E. Hemipholia F. Muell. Activates Factor XII of the blood clotting system which also causes kinin release; used in research and as a dye. [from MeSH]

MedGen UID:
4912
Concept ID:
C0013900
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
2.

Down-regulation

A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
4386
Concept ID:
C0013081
Molecular Function
3.

Familial colorectal cancer

Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013). Genetic Heterogeneity of Colorectal Cancer Mutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP; 175100) and hereditary nonpolyposis colorectal cancer (HNPCC; see 120435). FAP is caused by mutations in the APC gene (611731), whereas HNPCC is caused by mutations in several genes, including MSH2 (609309), MLH1 (120436), PMS1 (600258), PMS2 (600259), MSH6 (600678), TGFBR2 (190182), and MLH3 (604395). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, 613244). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (608456), which is caused by mutations in the MUTYH gene (604933), and oligodontia-colorectal cancer syndrome (608615), which is caused by mutations in the AXIN2 gene (604025). The CHEK2 gene (604373) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (172411) was identified in a patient with colorectal cancer. Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (608812) is conferred by mutation in the GALNT12 gene (610290) on chromosome 9q22; CRCS2 (611469) maps to chromosome 8q24; CRCS3 (612229) is conferred by variation in the SMAD7 gene (602932) on chromosome 18; CRCS4 (601228) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (603054); CRCS5 (612230) maps to chromosome 10p14; CRCS6 (612231) maps to chromosome 8q23; CRCS7 (612232) maps to chromosome 11q23; CRCS8 (612589) maps to chromosome 14q22; CRCS9 (612590) maps to 16q22; CRCS10 (612591) is conferred by mutation in the POLD1 gene (174761) on chromosome 19q13; CRCS11 (612592) maps to chromosome 20p12; and CRCS12 (615083) is conferred by mutation in the POLE gene (174762) on chromosome 12q24. Somatic mutations in many different genes, including KRAS (190070), PIK3CA (171834), BRAF (164757), CTNNB1 (116806), FGFR3 (134934), AXIN2 (604025), AKT1 (164730), MCC (159350), MYH11 (160745), PARK2 (602544), and RNF43 (612482), have been identified in colorectal cancer. [from GTR]

MedGen UID:
430218
Concept ID:
CN029768
Disease or Syndrome
4.

Carcinoma of colon

Lynch syndrome, caused by a germline pathogenic variant in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following life time risks for cancer are seen: 52%-82% for colorectal cancer (mean age at diagnosis 44-61 years); 25%-60% for endometrial cancer in women (mean age at diagnosis 48-62 years); 6% to 13% for gastric cancer (mean age at diagnosis 56 years); and 4%-12% for ovarian cancer (mean age at diagnosis 42.5 years; approximately 30% are diagnosed before age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates. [from GTR]

MedGen UID:
147065
Concept ID:
C0699790
Neoplastic Process
5.

Colon cancer

A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma. [from NCI]

MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
6.

Antioxidant

A group of organic or inorganic substances capable of preventing the genotoxic and carcinogenic effects of free-radical compounds. Antioxidants bind to and neutralize ('scavenge') free radicals, thereby transforming them into non-toxic compounds and blocking their genotoxic and carcinogenic effects. This class of agents includes the vitamins C and E, the carotenoids, and selenium. Organic antioxidants are found in high concentrations in fruits, seeds and vegetables. (NCI04) [from NCI]

MedGen UID:
1608
Concept ID:
C0003402
Pharmacologic Substance
7.

AT 10

MedGen UID:
108470
Concept ID:
C0591126
Organic Chemical; Pharmacologic Substance
8.

Regular insulin

A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1). [from MeSH]

MedGen UID:
5827
Concept ID:
C0021641
Amino Acid, Peptide, or Protein; Hormone; Pharmacologic Substance
9.

DNA damage

Drug-, radiation-induced, or spontaneous injuries to DNA that introduce deviations from its normal double-helical conformation. These changes include structural distortions that interfere with replication and transcription, as well as point mutations that disrupt base pairs and exert damaging effects on future generations through changes in DNA sequence. If the damage is minor, it can often be repaired (DNA repair); extensive damage can induce apoptosis. [from NCI]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
10.

Tissue Differentiation

MedGen UID:
274277
Concept ID:
C1519519
Finding
11.

DNA Fragmentation

A process that results in the breaking of macromolecular DNA into small pieces. [from NCI]

MedGen UID:
138244
Concept ID:
C0376669
Molecular Function
12.

Intestinal Neoplasm

A benign or malignant neoplasm involving the small or large intestine. [from NCI]

MedGen UID:
43932
Concept ID:
C0021841
Neoplastic Process
13.

Protective agent

A class of agents used in prophylactic or curative therapy to attenuate the negative side effects of toxins or drugs. Protective agents belong to various chemical classes, acting through various pharmacological mechanisms. They may neutralize exogenous poisons, coat mucosa for protection against physical or chemical damage, offer antioxidant protection against free radicals or ionizing radiation, or induce endogenous detoxifying enzymes. (NCI04) [from NCI]

MedGen UID:
19516
Concept ID:
C0033613
Pharmacologic Substance
14.

Gastrointestinal disease

A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. [from NCI]

MedGen UID:
8970
Concept ID:
C0017178
Disease or Syndrome
15.

Neoplasm of digestive tract

Tumors or cancer of the DIGESTIVE SYSTEM. [from MeSH]

MedGen UID:
8398
Concept ID:
C0012243
Neoplastic Process
16.

Abnormality of the intestine

A non-neoplastic or neoplastic disorder that affects the small or large intestine. [from NCI]

MedGen UID:
7130
Concept ID:
C0021831
Disease or Syndrome
17.

Neoplasm of the gastrointestinal tract

A benign or malignant neoplasm involving any part of the digestive system. [from NCI]

MedGen UID:
4846
Concept ID:
C0017185
Neoplastic Process
18.

Neoplasm of the large intestine

A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. [from NCI]

MedGen UID:
3171
Concept ID:
C0009404
Neoplastic Process
19.

Colonic Neoplasms

A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. [from NCI]

MedGen UID:
3165
Concept ID:
C0009375
Neoplastic Process
20.

Disorder of colon

Pathological processes in the COLON region of the large intestine (INTESTINE, LARGE). [from MeSH]

MedGen UID:
1049
Concept ID:
C0009373
Disease or Syndrome
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