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1.

Hedgehog Signaling Pathway

The Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and organs. Hh signaling is also involved in control of stem cell proliferation in adult tissues and aberrant activation of the Hh pathway has been linked to multiple types of human cancer. Members of the Hh family bind to patched (ptc), thus releasing smoothened (smo) to transduce a signal. Transcriptional activation occurs through the GLI family of proteins resulting in activation of target genes. [from NCI_KEGG]

MedGen UID:
452886
Concept ID:
C1155468
Molecular Function
2.

Neoplasm of the pancreas

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

MedGen UID:
330845
Concept ID:
C1842408
Finding
3.

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 OMIM]

MedGen UID:
65917
Concept ID:
C0235974
Neoplastic Process
4.

Signal Transduction Pathways

An elaboration of the known or inferred interactions involved in a signal transduction pathway. [from NCI]

MedGen UID:
39530
Concept ID:
C0086982
Molecular Function
5.

Experimental Tumor

Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms. [from MeSH]

MedGen UID:
10216
Concept ID:
C0027659
Experimental Model of Disease; Neoplastic Process
6.

Conotruncal anomaly face syndrome

A syndrome of dysmorphic facies and conotruncal heart defects having common genetic characteristics with DiGeorge and Shprinzen syndromes. Considered a variant of the CATCH 22 syndrome. [from MCA/MR]

MedGen UID:
162890
Concept ID:
C0795907
Disease or Syndrome
7.

Epithelial Neoplasm

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. [from NCI]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
8.

Ductal Carcinoma

Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND. [from MeSH]

MedGen UID:
225902
Concept ID:
C1176475
Neoplastic Process
9.

Carcinoma, Pancreatic Ductal

Carcinoma that arises from the PANCREATIC DUCTS. It accounts for the majority of cancers derived from the PANCREAS. [from MeSH]

MedGen UID:
165776
Concept ID:
C0887833
Neoplastic Process
10.

Neoplasms, Ductal, Lobular, and Medullary

Neoplasms, usually carcinoma, located within the center of an organ or within small lobes, and in the case of the breast, intraductally. The emphasis of the name is on the location of the neoplastic tissue rather than on its histological type. Most cancers of this type are located in the breast. [from MeSH]

MedGen UID:
104937
Concept ID:
C0206768
Neoplastic Process
11.

Carcinomatosis

Carcinoma that has spread diffusely to an anatomic site or throughout the body. [from NCI]

MedGen UID:
104704
Concept ID:
C0205699
Neoplastic Process
12.

Cribriform Carcinoma

A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma. [from NCI]

MedGen UID:
104694
Concept ID:
C0205643
Neoplastic Process
13.

Tubular Adenocarcinoma

An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma. [from NCI]

MedGen UID:
61428
Concept ID:
C0205645
Neoplastic Process
14.

Oxyphilic Adenocarcinoma

An adenocarcinoma characterized by the presence of large malignant epithelial cells with abundant granular eosinophilic cytoplasm (oncocytes). Representative examples include thyroid gland oncocytic follicular carcinoma, oncocytic breast carcinoma, and salivary gland oncocytic carcinoma. [from NCI]

MedGen UID:
61427
Concept ID:
C0205642
Neoplastic Process
15.

Undifferentiated Carcinoma

A malignant epithelial neoplasm exhibiting poor differentiation (anaplasia). [from NCI_CDISC]

MedGen UID:
60010
Concept ID:
C0205698
Neoplastic Process
16.

Sarcomatoid Carcinoma

A malignant epithelial neoplasm characterized by the presence of spindle cells. [from NCI_CDISC]

MedGen UID:
60009
Concept ID:
C0205697
Neoplastic Process
17.

Carcinoma, anaplastic

MedGen UID:
60008
Concept ID:
C0205696
Neoplastic Process
18.

Pancreatic Neoplasms

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

MedGen UID:
18279
Concept ID:
C0030297
Neoplastic Process
19.

Abnormality of the pancreas

The pancreas is a gland behind your stomach and in front of your spine. It produces juices that help break down food and hormones that help control blood sugar levels. Problems with the pancreas can lead to many health problems. These include. -Pancreatitis, or inflammation of the pancreas: This happens when digestive enzymes start digesting the pancreas itself. - Pancreatic cancer. - Cystic fibrosis, a genetic disorder in which thick, sticky mucus can also block tubes in your pancreas. The pancreas also plays a role in diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin because the body's immune system has attacked them. In type 2 diabetes, the pancreas loses the ability to secrete enough insulin in response to meals. .  [from MedlinePlus]

MedGen UID:
14583
Concept ID:
C0030286
Disease or Syndrome
20.

Neoplasms by Histologic Type

A collective term for the various histological types of NEOPLASMS. It is more likely to be used by searchers than by indexers and catalogers. [from MeSH]

MedGen UID:
10295
Concept ID:
C0027652
Neoplastic Process
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