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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.

Malignant tumor of prostate

The prostate is the gland below a man's bladder that produces fluid for semen. Prostate cancer is common among older men. It is rare in men younger than 40. Risk factors for developing prostate cancer include being over 65 years of age, family history, and being African-American. Symptoms of prostate cancer may include. -Problems passing urine, such as pain, difficulty starting or stopping the stream, or dribbling. -Low back pain. -Pain with ejaculation. To diagnose prostate cancer, you doctor may do a digital rectal exam to feel the prostate for lumps or anything unusual. You may also get a blood test for prostate-specific antigen (PSA). These tests are also used in prostate cancer screening, which looks for cancer before you have symptoms. If your results are abnormal, you may need more tests, such as an ultrasound, MRI, or biopsy. Treatment often depends on the stage of the cancer. How fast the cancer grows and how different it is from surrounding tissue helps determine the stage. Men with prostate cancer have many treatment options. The treatment that's best for one man may not be best for another. The options include watchful waiting, surgery, radiation therapy, hormone therapy, and chemotherapy. You may have a combination of treatments. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
138169
Concept ID:
C0376358
Neoplastic Process
3.

breast cancer

MedGen UID:
880206
Concept ID:
CN235590
Finding
4.

Breast cancer

MedGen UID:
808165
Concept ID:
CN221572
Disease or Syndrome
5.

Colorectal cancer

MedGen UID:
808161
Concept ID:
CN221574
Disease or Syndrome
6.

Prostate cancer

A cancer of the prostate. [from HPO]

MedGen UID:
506673
Concept ID:
CN167851
Finding
7.

Neoplasm of the breast

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

MedGen UID:
506444
Concept ID:
CN116912
Finding
8.

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
9.

Breast carcinoma

The presence of a carcinoma of the breast. [from HPO]

MedGen UID:
428324
Concept ID:
CN002714
Finding
10.

Colorectal cancer 2

MedGen UID:
369417
Concept ID:
C1969113
Finding
11.

Neoplasm of breast

Tumors or cancer of the human BREAST. [from MeSH]

MedGen UID:
264172
Concept ID:
C1458155
Neoplastic Process
12.

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
13.

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
Organism Attribute
14.

Genitourinary neoplasm

A tumor (abnormal growth of tissue) of the genitourinary system. [from HPO]

MedGen UID:
22583
Concept ID:
C0042065
Neoplastic Process
15.

Prostatic Neoplasms

A benign, borderline, or malignant neoplasm that affects the prostate gland. Representative examples include benign prostate phyllodes tumor, prostatic intraepithelial neoplasia, prostate carcinoma, and prostate sarcoma. [from NCI]

MedGen UID:
18697
Concept ID:
C0033578
Neoplastic Process
16.

Disorder of 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
17.

Disorder of digestive system

When you eat, your body breaks food down to a form it can use to build and nourish cells and provide energy. This process is called digestion. . Your digestive system is a series of hollow organs joined in a long, twisting tube. It runs from your mouth to your anus and includes your esophagus, stomach, and small and large intestines. Your liver, gallbladder and pancreas are also involved. They produce juices to help digestion. . There are many types of digestive disorders. The symptoms vary widely depending on the problem. In general, you should see your doctor if you have . -Blood in your stool. -Changes in bowel habits. -Severe abdominal pain. -Unintentional weight loss. -Heartburn not relieved by antacids. NIH: National Institute of Diabetes and Digestive and Kidney Diseases .  [from MedlinePlus]

MedGen UID:
3828
Concept ID:
C0012242
Disease or Syndrome
18.

Neoplasm of the large intestine

Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI. [from MeSH]

MedGen UID:
3171
Concept ID:
C0009404
Neoplastic Process
19.

Colorectal cancer, susceptibility to, 12

Colorectal cancer-12 is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable (Palles et al., 2013) or show microsatellite instability (MSI) (Elsayed et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500. [from OMIM]

MedGen UID:
767374
Concept ID:
C3554460
Finding; Neoplastic Process
20.

Colorectal cancer 10

MedGen UID:
436445
Concept ID:
C2675481
Finding
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