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Results: 1 to 20 of 34

1.

Colon cancer

MedGen UID:
446464
Concept ID:
CN002715
Finding
2.

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
3.

History of previous events

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
4.

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
5.

Colorectal Cancer

The colon and rectum are part of the large intestine. Colorectal cancer occurs when tumors form in the lining of the large intestine. It is common in both men and women. The risk of developing colorectal cancer rises after age 50. You're also more likely to get it if you have colorectal polyps, a family history of colorectal cancer, ulcerative colitis or Crohn's disease, eat a diet high in fat, or smoke. Symptoms of colorectal cancer include: -Diarrhea or constipation. -A feeling that your bowel does not empty completely. -Blood (either bright red or very dark) in your stool. -Stools that are narrower than usual. -Frequent gas pains or cramps, or feeling full or bloated. -Weight loss with no known reason. -Fatigue. -Nausea or vomiting. Because you may not have symptoms at first, it's important to have screening tests. Everyone over 50 should get screened. Tests include colonoscopy and tests for blood in the stool. Treatments for colorectal cancer include surgery, chemotherapy, radiation, or a combination. Surgery can usually cure it when it is found early. NIH: National Cancer Institute.  [from MedlinePlus]

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

Malignant Neoplasm

Cancer begins in your cells, which are the building blocks of your body. Normally, your body forms new cells as you need them, replacing old cells that die. Sometimes this process goes wrong. New cells grow even when you don't need them, and old cells don't die when they should. These extra cells can form a mass called a tumor. Tumors can be benign or malignant. Benign tumors aren't cancer while malignant ones are. Cells from malignant tumors can invade nearby tissues. They can also break away and spread to other parts of the body. . Cancer is not just one disease but many diseases. There are more than 100 different types of cancer. Most cancers are named for where they start. For example, lung cancer starts in the lung, and breast cancer starts in the breast. The spread of cancer from one part of the body to another is called metastasis. Symptoms and treatment depend on the cancer type and how advanced it is. Most treatment plans may include surgery, radiation and/or chemotherapy. Some may involve hormone therapy, biologic therapy, or stem cell transplantation. . NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
14297
Concept ID:
C0006826
Neoplastic Process
7.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
8.

Colorectal cancer

MedGen UID:
808161
Concept ID:
CN221574
Disease or Syndrome
9.

disease

An alteration of health status resulting from a physiopathological mechanism, and having a homogeneous clinical presentation and evolution and homogeneous therapeutic possibilities. Excludes developmental anomalies. [from ORDO]

MedGen UID:
798428
Concept ID:
CN204926
Disease or Syndrome
10.

History of

A collection of information about a person's health. It may include information about allergies, illnesses and surgeries, and dates and results of physical exams, tests, screenings, and immunizations. It may also include information about medicines taken and about diet and exercise. [from NCI]

MedGen UID:
82657
Concept ID:
C0262926
Finding
11.

Family history of cancer

A record of a patient's medical background regarding the cancer and cancer-related problems of blood relatives. [from NCI]

MedGen UID:
82635
Concept ID:
C0260515
Finding
12.

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
13.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
14.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
15.

Intestinal Neoplasm

Tumors or cancer of the INTESTINES. [from MeSH]

MedGen UID:
43932
Concept ID:
C0021841
Neoplastic Process
16.

Pathological Conditions, Signs and Symptoms

Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome. [from MeSH]

MedGen UID:
21047
Concept ID:
C0039058
Sign or Symptom
17.

Pathologic Processes

The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs. [from MeSH]

MedGen UID:
18325
Concept ID:
C0030660
Pathologic Function
18.

Neoplasm by Site

A collective term for precoordinated organ/neoplasm headings locating neoplasms by organ, as BRAIN NEOPLASMS; DUODENAL NEOPLASMS; LIVER NEOPLASMS; etc. [from MeSH]

MedGen UID:
10296
Concept ID:
C0027653
Neoplastic Process
19.

Neoplasm

A general term for autonomous tissue growth in which the malignancy status has not been established and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
20.

Disorder of gastrointestinal tract

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

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