Biomaterial Database

Familial pancreatic cancer syndromes. 2006

Nils Habbe, and Peter Langer, and Mercedes Sina-Frey, and Detlef K Bartsch

Department of Surgery, Philipps-University Marburg, Baldiger Strasse, Marburg 35033, Germany.

Hereditary pancreatic cancer (PC) is rare and extremely heterogeneous, and it accounts for approximately 2% of all PC cases. The major component of hereditary PC is the familial pancreatic cancer syndrome. Although up to 20% of hereditary PC cases are associated with germline mutations in the BRCA2, CDKN2A, PRSS1,STKI1, or MMR genes, the major underlying gene defect(s) is still unknown. Although hereditary PC is rare, the data on PC families that have been collected by various study groups worldwide provide a unique opportunity to evaluate the natural history, causative gene alterations, new diagnosis and chemoprevention strategies as well as treatment modalities.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010190	Pancreatic Neoplasms	Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).	Cancer of Pancreas,Pancreatic Cancer,Cancer of the Pancreas,Neoplasms, Pancreatic,Pancreas Cancer,Pancreas Neoplasms,Pancreatic Acinar Carcinoma,Pancreatic Carcinoma,Acinar Carcinoma, Pancreatic,Acinar Carcinomas, Pancreatic,Cancer, Pancreas,Cancer, Pancreatic,Cancers, Pancreas,Cancers, Pancreatic,Carcinoma, Pancreatic,Carcinoma, Pancreatic Acinar,Carcinomas, Pancreatic,Carcinomas, Pancreatic Acinar,Neoplasm, Pancreas,Neoplasm, Pancreatic,Neoplasms, Pancreas,Pancreas Cancers,Pancreas Neoplasm,Pancreatic Acinar Carcinomas,Pancreatic Cancers,Pancreatic Carcinomas,Pancreatic Neoplasm
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010580	Peutz-Jeghers Syndrome	A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.	Lentiginosis, Perioral,Periorificial Lentiginosis Syndrome,Peutz-Jegher's Syndrome,Peutz-Jeghers Polyposis,Polyposis, Hamartomatous Intestinal,Polyps-and-Spots Syndrome,Hamartomatous Intestinal Polyposes,Hamartomatous Intestinal Polyposis,Intestinal Polyposes, Hamartomatous,Intestinal Polyposis, Hamartomatous,Lentiginoses, Perioral,Perioral Lentiginoses,Perioral Lentiginosis,Periorificial Lentiginosis Syndromes,Peutz Jegher's Syndrome,Peutz Jeghers Polyposis,Peutz Jeghers Syndrome,Peutz-Jegher Syndrome,Polyposes, Hamartomatous Intestinal,Polyposis, Peutz-Jeghers,Polyps and Spots Syndrome,Polyps-and-Spots Syndromes,Syndrome, Periorificial Lentiginosis,Syndrome, Peutz-Jegher's,Syndrome, Peutz-Jeghers,Syndrome, Polyps-and-Spots,Syndromes, Periorificial Lentiginosis,Syndromes, Polyps-and-Spots
D004416	Dysplastic Nevus Syndrome	Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)	B-K Mole Syndrome,Familial Atypical Multiple Mole-Melanoma,Nevus Syndrome, Dysplastic,Nevus, Dysplastic,Dysplastic Nevi,B K Mole Syndrome,Dysplastic Nevus,Familial Atypical Multiple Mole Melanoma,Nevi, Dysplastic,Syndrome, B-K Mole,Syndrome, Dysplastic Nevus
D005260	Female		Females
D005820	Genetic Testing	Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.	Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000230	Adenocarcinoma	A malignant epithelial tumor with a glandular organization.	Adenocarcinoma, Basal Cell,Adenocarcinoma, Granular Cell,Adenocarcinoma, Oxyphilic,Adenocarcinoma, Tubular,Adenoma, Malignant,Carcinoma, Cribriform,Carcinoma, Granular Cell,Carcinoma, Tubular,Adenocarcinomas,Adenocarcinomas, Basal Cell,Adenocarcinomas, Granular Cell,Adenocarcinomas, Oxyphilic,Adenocarcinomas, Tubular,Adenomas, Malignant,Basal Cell Adenocarcinoma,Basal Cell Adenocarcinomas,Carcinomas, Cribriform,Carcinomas, Granular Cell,Carcinomas, Tubular,Cribriform Carcinoma,Cribriform Carcinomas,Granular Cell Adenocarcinoma,Granular Cell Adenocarcinomas,Granular Cell Carcinoma,Granular Cell Carcinomas,Malignant Adenoma,Malignant Adenomas,Oxyphilic Adenocarcinoma,Oxyphilic Adenocarcinomas,Tubular Adenocarcinoma,Tubular Adenocarcinomas,Tubular Carcinoma,Tubular Carcinomas
D019398	Genes, BRCA1	A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.	BRCA1 Gene,BRCA1 Genes,Gene, BRCA1