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1.

Neoplasm of the pancreas

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

MedGen UID:
330845
Concept ID:
C1842408
Finding
2.

Carcinoma of pancreas

Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic Cancer Somatic mutations in pancreatic cancer occur in the KRAS (190070), CDKN2A (600160), MADH4 (600993), TP53 (191170), ARMET (601916), STK11 (602216), ACVR1B (601300), and RBBP8 (604124) genes. Susceptibility loci for pancreatic cancer include PNCA1 (606856), related to mutation in the PALLD gene on chromosome 4q32 (608092); PNCA2 (613347), related to mutation in the BRCA2 gene on chromosome 13q12 (600185); PNCA3 (613348), related to mutation in the PALB2 gene on chromosome 16p12 (610355); and PNCA4 (614320), related to mutation in the BRCA1 gene on chromosome 17q21 (113705). Occurrence of Pancreatic Cancer in Other Disorders Several familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see 120435); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (175200); the melanoma-pancreatic cancer syndrome (606719), caused by mutations in CDKN2A (600160); von Hippel-Lindau syndrome (193300), ataxia-telangiectasia (208900) (Swift et al., 1976), and juvenile polyposis syndrome (174900). Patients with hereditary pancreatitis (167800) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1; 276000) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997). [from GTR]

MedGen UID:
65917
Concept ID:
C0235974
Neoplastic Process
3.

Diagnosis

The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. [from MeSH]

MedGen UID:
8354
Concept ID:
C0011900
Finding
4.

Adenocarcinoma

A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. [from NCI]

MedGen UID:
122
Concept ID:
C0001418
Neoplastic Process
5.

High risk of

The potential future harm that may arise from some present action or attribute or condition is almost certain. [from NCI]

MedGen UID:
568174
Concept ID:
C0332167
Finding
6.

Pancreatic adenocarcinoma

The presence of an adenocarcinoma of the pancreas. [from HPO]

MedGen UID:
505959
Concept ID:
CN005854
Finding
7.

Familial pancreatic carcinoma

A carcinoma that arises from the pancreas in a patient with a family history of pancreatic cancer. In the minority of cases, patients have recognized genetic syndromes (e.g., FAMMM syndrome, BRCA2 syndrome, Peutz-Jeghers syndrome) however, in the majority of cases the genetic cause has not been identified. [from NCI]

MedGen UID:
419700
Concept ID:
C2931038
Neoplastic Process
8.

History

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
9.

Pancreatic adenocarcinoma

An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma. [from NCI]

MedGen UID:
83800
Concept ID:
C0281361
Neoplastic Process
10.

Recruitment

MedGen UID:
78772
Concept ID:
C0271510
Disease or Syndrome
11.

Family history

A record of a patient's background regarding health and disease events of blood relatives. A patient's family medical history may be important in diagnosing existing conditions. [from NCI]

MedGen UID:
69143
Concept ID:
C0241889
Finding
12.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
13.

Familial multiple polyposis syndrome

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis. [from GTR]

MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
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
Organism Attribute
15.

Pancreatic Neoplasms

A benign or malignant neoplasm involving the pancreas. [from NCI]

MedGen UID:
18279
Concept ID:
C0030297
Neoplastic Process
16.

Abnormality of the pancreas

A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. [from NCI]

MedGen UID:
14583
Concept ID:
C0030286
Disease or Syndrome
17.

Neoplasm of digestive tract

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

MedGen UID:
8398
Concept ID:
C0012243
Neoplastic Process
18.

Neoplasm of the endocrine system

A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. [from NCI]

MedGen UID:
4044
Concept ID:
C0014132
Neoplastic Process
19.

Disorder of endocrine system

A non-neoplastic or neoplastic disorder that affects the endocrine system. Representative examples of non-neoplastic disorders include diabetes mellitus, hyperthyroidism, and adrenal gland insufficiency. Representative examples of neoplastic disorders include carcinoid tumor, neuroendocrine carcinoma, and pheochromocytoma. [from NCI]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
20.

History of malignant neoplasm of pancreas

MedGen UID:
871918
Concept ID:
C4039053
Finding
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