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Results: 1 to 20 of 40

1.

Chromosomal Instability

The instability of chromosomes is attributed to the continuous formation of novel chromosome mutations. These mutations form at an elevated rate in comparison to the normal cell population. The increased frequency of structural chromosome aberrations can be caused by an abnormally high incidence of DNA double-strand breaks and translocations. Screening for chromosomal breakage and rearrangement is used as a diagnostic tool in Fanconi anemia. [from NCI]

MedGen UID:
263436
Concept ID:
C1257806
Cell or Molecular Dysfunction
2.

Malignant neoplastic disease

A general term for autonomous tissue growth exhibiting morphologic features of malignancy (e.g. severe atypia, nuclear pleomorphism, tumor cell necrosis, abnormal mitoses, tissue invasiveness) and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
14297
Concept ID:
C0006826
Neoplastic Process
3.

Instability

MedGen UID:
731956
Concept ID:
C1444783
Finding
4.

Stress

The response of the body to physical, mental, or emotional pressure. This may make a person feel frustrated, angry, or anxious, and may cause unhealthy chemical changes in the body. Untreated, long-term stress may lead to many types of mental and physical health problems. [from NCI]

MedGen UID:
20971
Concept ID:
C0038435
Finding
5.

Colorectal Cancer

Cancer of the colon or rectum is also called colorectal cancer. In the United States, it is the fourth most common cancer in men and women. Caught early, it is often curable. . It is more common in people over 50, and the risk increases with age. You are also more likely to get it if you have: -Polyps - growths inside the colon and rectum that may become cancerous. -A diet that is high in fat. -A family history or personal history of colorectal cancer. -Ulcerative colitis or Crohn's disease. Symptoms can include blood in the stool, narrower stools, a change in bowel habits and general stomach discomfort. However, you may not have symptoms at first, so screening is important. Everyone who is 50 or older should be screened for colorectal cancer. Colonoscopy is one method that your doctor can use to screen for colorectal cancer. Treatments for colorectal cancer include surgery, chemotherapy, radiation or a combination. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
287122
Concept ID:
C1527249
Neoplastic Process
6.

Heterogeneous

Made up of elements or ingredients that are not alike. [from NCI]

MedGen UID:
5539
Concept ID:
C0019409
7.

DNA damage

Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS. [from MeSH]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
8.

Carcinoma

type of cancer [from CHV]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
9.

Aneuploidy

The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). [from MeSH]

MedGen UID:
294
Concept ID:
C0002938
Cell or Molecular Dysfunction
10.

Adenoma

A tumor that is not cancer. It starts in gland-like cells of the epithelial tissue (thin layer of tissue that covers organs, glands, and other structures within the body). [from NCI]

MedGen UID:
125
Concept ID:
C0001430
Neoplastic Process
11.

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), and PARK2 (602544) have been identified in colorectal cancer. [from OMIM]

MedGen UID:
430218
Concept ID:
CN029768
Disease or Syndrome
12.

Carcinoma of colon

Cancer that forms in the tissues of the colon (the longest part of the large intestine). Most colon cancers are adenocarcinomas (cancers that begin in cells that make and release mucus and other fluids). [from NCI]

MedGen UID:
147065
Concept ID:
C0699790
Neoplastic Process
13.

Onset

The start, beginning, or early stages. [from NCI]

MedGen UID:
87142
Concept ID:
C0332162
14.

Colorectal Carcinoma

Cancer that develops in the colon (the longest part of the large intestine) and/or the rectum (the last several inches of the large intestine before the anus). [from NCI]

MedGen UID:
3170
Concept ID:
C0009402
Neoplastic Process
15.

Biochemical Processes

Chemical reactions or functions, enzymatic activities, and metabolic pathways of living things. [from MeSH]

MedGen UID:
267723
Concept ID:
C1511130
Molecular Function
16.

An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional. [from MeSH]

MedGen UID:
182518
Concept ID:
C0919532
17.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
18.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
19.

Sugar

A white crystalline carbohydrate, typically sucrose, used as a sweetener and preservative. [from NCI]

MedGen UID:
69157
Concept ID:
C0242209
Pharmacologic Substance
20.

Neoplasm of intestinal tract

Tumors or cancer of the INTESTINES. [from MeSH]

MedGen UID:
43932
Concept ID:
C0021841
Neoplastic Process

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