Format
Items per page

Send to:

Choose Destination

Links from PMC

Items: 17

1.

Increased reactive oxygen species production

An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage. [from HPO]

MedGen UID:
1390274
Concept ID:
C4476796
Cell or Molecular Dysfunction
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), PARK2 (602544), RNF43 (612482), and BUB1 (601452) have been identified in colorectal cancer. [from OMIM]

MedGen UID:
965772
Concept ID:
CN280943
Disease or Syndrome
3.

Carcinoma of colon

Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome. [from GeneReviews]

MedGen UID:
147065
Concept ID:
C0699790
Neoplastic Process
4.

Colorectal cancer

Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome. [from GeneReviews]

MedGen UID:
3170
Concept ID:
C0009402
Neoplastic Process
5.

Malignant tumor of colon

A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma. [from NCI]

MedGen UID:
2839
Concept ID:
C0007102
Neoplastic Process
6.

Intestinal neoplasm

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

MedGen UID:
43932
Concept ID:
C0021841
Neoplastic Process
7.

Neoplasm of the gastrointestinal tract

A benign or malignant neoplasm involving any part of the digestive system. [from NCI]

MedGen UID:
4846
Concept ID:
C0017185
Neoplastic Process
8.

Neoplasm of the large intestine

A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. [from NCI]

MedGen UID:
3171
Concept ID:
C0009404
Neoplastic Process
9.

Colonic neoplasm

A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. [from NCI]

MedGen UID:
3165
Concept ID:
C0009375
Neoplastic Process
10.

Colonic disease

Pathological processes in the colon region of the large intestine (intestine, large). [from MONDO]

MedGen UID:
1049
Concept ID:
C0009373
Disease or Syndrome
11.

Small intestine cancer

MedGen UID:
880183
Concept ID:
CN235596
Disease or Syndrome
12.

Increased activity of mitochondrial respiratory chain

MedGen UID:
868100
Concept ID:
C4022491
Finding
13.

Colon cancer, susceptibility to

MedGen UID:
865257
Concept ID:
C4016820
Finding
14.

Colorectal cancer 3

MedGen UID:
436866
Concept ID:
C2677123
Finding
15.

Colorectal cancer 5

MedGen UID:
393664
Concept ID:
C2677122
Finding
16.

Neoplasm of the small intestine

A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. [from NCI]

MedGen UID:
91055
Concept ID:
C0345832
Neoplastic Process
17.

Benign neoplasm of small intestine

A non-metastasizing neoplasm arising from the wall of the small intestine. [from NCI]

MedGen UID:
56324
Concept ID:
C0153944
Neoplastic Process
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center