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Results: 17

1.

Myeloid tumor suppressor

MedGen UID:
318644
Concept ID:
C1832510
Disease or Syndrome
2.

Monosomy

The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. [from MeSH]

MedGen UID:
6432
Concept ID:
C0026499
Congenital Abnormality
3.

Colon cancer

MedGen UID:
446464
Concept ID:
CN002715
Finding
4.

Chromosome 7, monosomy

MedGen UID:
431110
Concept ID:
CN035932
Disease or Syndrome
5.

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
6.

Acyl-CoA thioester hydrolase, long-chain, 1

MedGen UID:
351308
Concept ID:
C1865144
7.

Chromosome 7, monosomy

A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells. [from NCI]

MedGen UID:
307798
Concept ID:
C1513483
Cell or Molecular Dysfunction
8.

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
9.

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
10.

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
11.

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
12.

Chronic monocytic leukemia

MedGen UID:
9729
Concept ID:
C0023466
Neoplastic Process
13.

leukemia

A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006) [from MeSH]

MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
14.

Myeloid leukemia

Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (MYELOID PROGENITOR CELLS) in the bone marrow and other sites. [from MeSH]

MedGen UID:
7320
Concept ID:
C0023470
Neoplastic Process
15.

Chromosome Aberrations

irregularity in the number or structure of chromosomes that may alter the course of development. [from CRISP]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
16.

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
17.

Colonic Band

A pathologic fibrous band that impedes passage of intestinal contents through the colon. [from NCI]

MedGen UID:
768719
Concept ID:
C3640079
Finding

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