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1.

Cancers, Colorectal

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.

Cetuximab

A chimeric monoclonal antibody that functions as an ANTINEOPLASTIC AGENT through its binding to the EPIDERMAL GROWTH FACTOR RECEPTOR, where it prevents the binding and signaling action of cell growth and survival factors. [from MeSH]

MedGen UID:
242381
Concept ID:
C0995188
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
3.

Panitumumab

A human monoclonal antibody produced in transgenic mice that attaches to the transmembrane epidermal growth factor (EGF) receptor. Panitumumab may inhibit autocrine EGF stimulation of tumor cells that express the EGF receptor, thereby inhibiting tumor cell proliferation. [from NCI]

MedGen UID:
168099
Concept ID:
C0879427
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
4.

Colorectal cancer

MedGen UID:
945535
Concept ID:
CN262507
Finding
5.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
6.

Colorectal cancer.

MedGen UID:
910619
Concept ID:
CN240758
Disease or Syndrome
7.

Consideration

Careful thought or deliberation. [from NCI]

MedGen UID:
810608
Concept ID:
C0518609
Finding
8.

Colorectal cancer

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

Enthesitis-related arthritis

MedGen UID:
798421
Concept ID:
CN206193
Finding
10.

Agree

To concur. [from NCI]

MedGen UID:
770467
Concept ID:
C3641827
Finding
11.

EGFR-related lung cancer

MedGen UID:
472093
Concept ID:
CN130014
Disease or Syndrome
12.

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
13.

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
14.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
15.

Erbitux

MedGen UID:
217485
Concept ID:
C1173436
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
16.

Metastasis

The spread or migration of cancer cells from one part of the body (the organ in which it first appeared) to another. The secondary tumor contains cells that are like those in the original (primary) tumor. [from NCI]

MedGen UID:
45032
Concept ID:
C0027627
Neoplastic Process
17.

Intestinal Neoplasm

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

MedGen UID:
43932
Concept ID:
C0021841
Neoplastic Process
18.

Disorder of rectum

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

MedGen UID:
19701
Concept ID:
C0034882
Disease or Syndrome
19.

Neoplasm of digestive tract

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

MedGen UID:
8398
Concept ID:
C0012243
Neoplastic Process
20.

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
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