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Items: 12

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.

Cancer

An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). [from HPO]

MedGen UID:
14297
Concept ID:
C0006826
Neoplastic Process
4.

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
5.

Pancreatic Neoplasms

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

MedGen UID:
18279
Concept ID:
C0030297
Neoplastic Process
6.

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
7.

Neoplasm by Site

A term that refers to the classification of a neoplastic process according to the anatomic site that is involved. [from NCI]

MedGen UID:
10296
Concept ID:
C0027653
Neoplastic Process
8.

Neoplasm of digestive tract

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

MedGen UID:
8398
Concept ID:
C0012243
Neoplastic Process
9.

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
10.

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
11.

Abnormality of the gastrointestinal tract

An abnormality of the gastrointestinal tract. [from HPO]

MedGen UID:
3828
Concept ID:
C0012242
Disease or Syndrome
12.

Country of residence

MedGen UID:
736896
Concept ID:
C1562954
Finding
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