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1.

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
2.

Colorectal cancer.

MedGen UID:
910619
Concept ID:
CN240758
Disease or Syndrome
3.

Colorectal cancer

MedGen UID:
808161
Concept ID:
CN221574
Disease or Syndrome
4.

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 OMIM]

MedGen UID:
430218
Concept ID:
CN029768
Disease or Syndrome
5.

Cancer Cell Growth

The unregulated growth of cancer cells insofar as growth control and contact inhibition. [from NCI]

MedGen UID:
273061
Concept ID:
C1516170
Neoplastic Process
6.

Growth & development aspects

Used with microorganisms, plants, and the postnatal period of animals for growth and development. It includes also the postnatal growth or development of organs or anatomical parts. [from MeSH]

MedGen UID:
264311
Concept ID:
C1457898
Finding; Functional Concept; Physiologic Function
7.

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
8.

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
9.

Methylation

A chemical reaction in which a small molecule called a methyl group is added to other molecules. Methylation of proteins or nucleic acids may affect how they act in the body. [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function; Natural Phenomenon or Process
10.

Arginine

One of the twenty common amino acids (building blocks of proteins). Arginine is being studied as a nutritional supplement in the treatment and prevention of cancer and other conditions. [from NCI]

MedGen UID:
13907
Concept ID:
C0003765
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
11.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
12.

metaplastic cell transformation

In medicine, the change that a normal cell undergoes as it becomes malignant. [from NCI]

MedGen UID:
266929
Concept ID:
C1510411
Pathologic Function
13.

Error occurred: cannot get document summary

ID:
254858

14.

Intestinal Neoplasm

Tumors or cancer of the INTESTINES. [from MeSH]

MedGen UID:
43932
Concept ID:
C0021841
Neoplastic Process
15.

Disorder of rectum

The rectum is the lower part of your large intestine where your body stores stool. Problems with rectum are common. They include hemorrhoids, abscesses, incontinence and cancer. Many people are embarrassed to talk about rectal troubles. But seeing your doctor about problems in this area is important. This is especially true if you have pain or bleeding. Treatments vary widely depending on the particular problem. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
19701
Concept ID:
C0034882
Disease or Syndrome
16.

Up-Regulation (Physiology)

A positive 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:
12003
Concept ID:
C0041904
Cell Function; Molecular Function
17.

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
18.

Digestive System Neoplasms

new abnormal digestive system tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease; includes neoplasms of any of the organs that are associated with ingestion, digestion, and absorption of food. [from CRISP]

MedGen UID:
8398
Concept ID:
C0012243
Neoplastic Process
19.

Abnormality of the intestine

An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. [from HPO]

MedGen UID:
7130
Concept ID:
C0021831
Disease or Syndrome
20.

Neoplasm of the gastrointestinal tract

A tumor (abnormal growth of tissue) of the gastrointestinal tract. [from HPO]

MedGen UID:
4846
Concept ID:
C0017185
Neoplastic Process
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