Details of Disease

General Information of Disease (ID: DIS1XROR)

Disease Name Familial pancreatic carcinoma
Synonyms
pancreatic acinar carcinoma; familial pancreatic carcinoma; hereditary exocrine pancreatic carcinoma; hereditary pancreatic carcinoma; hereditary pancreatic cancer; pancreatic carcinoma, somatic; pancreatic cancer, somatic; familial pancreatic cancer
Definition Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.
Disease Hierarchy
DISYKSRF: Genetic disease
DISJC981: Pancreatic cancer
DIS1XROR: Familial pancreatic carcinoma
Disease Identifiers
MONDO ID
MONDO_0015278
MESH ID
C535837
UMLS CUI
C2931038
MedGen ID
419700
Orphanet ID
1333

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 8 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RABL3 TTYGK57 Supportive Autosomal dominant [1]
BRCA2 TTUARD6 Strong Genetic Variation [2]
CDKN2A TTFTWQ8 Strong SusceptibilityMutation [3]
CPB1 TT4UJX5 Strong Genetic Variation [4]
IDO2 TTALN9W Strong Genetic Variation [5]
KRAS TTM8FR7 Strong Genetic Variation [1]
RABL3 TTYGK57 Strong Genetic Variation [1]
RNASEL TT7V0K4 Strong Genetic Variation [6]
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⏷ Show the Full List of 8 DTT(s)
This Disease Is Related to 10 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PALD1 OTLGUM8H Limited Genetic Variation [7]
RABL3 OTKZ3C31 Supportive Autosomal dominant [1]
BRCA1 OT5BN6VH Strong Genetic Variation [8]
CDH10 OTK3D5WP Strong Genetic Variation [9]
FANCG OT7MC8TZ Strong Genetic Variation [10]
GTF2H5 OTRL219S Strong Biomarker [11]
PALLD OTZ2MUJZ Strong Genetic Variation [7]
PKHD1 OTAH8SMF Strong Biomarker [12]
SMAD4 OTWQWCKG Strong SusceptibilityMutation [3]
STK11 OT1YZSP3 Definitive Autosomal dominant [13]
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⏷ Show the Full List of 10 DOT(s)

References

1 Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer. Nat Genet. 2019 Sep;51(9):1308-1314. doi: 10.1038/s41588-019-0475-y. Epub 2019 Aug 12.
2 The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes. Fam Cancer. 2018 Apr;17(2):235-245. doi: 10.1007/s10689-017-0019-5.
3 Familial and sporadic pancreatic cancer share the same molecular pathogenesis.Fam Cancer. 2015 Mar;14(1):95-103. doi: 10.1007/s10689-014-9755-y.
4 Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer.Proc Natl Acad Sci U S A. 2018 May 1;115(18):4767-4772. doi: 10.1073/pnas.1720588115. Epub 2018 Apr 18.
5 A Sub-Type of Familial Pancreatic Cancer:Evidence and Implications of Loss-of-Function Polymorphisms in Indoleamine-2,3-Dioxygenase-2.J Am Coll Surg. 2018 Apr;226(4):596-603. doi: 10.1016/j.jamcollsurg.2017.12.052. Epub 2018 Feb 7.
6 RNASEL germline variants are associated with pancreatic cancer.Int J Cancer. 2005 Dec 10;117(5):718-22. doi: 10.1002/ijc.21254.
7 Absence of deleterious palladin mutations in patients with familial pancreatic cancer.Cancer Epidemiol Biomarkers Prev. 2009 Apr;18(4):1328-30. doi: 10.1158/1055-9965.EPI-09-0056. Epub 2009 Mar 31.
8 BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.Genet Med. 2015 Jul;17(7):569-77. doi: 10.1038/gim.2014.153. Epub 2014 Nov 20.
9 Alterations of type II classical cadherin, cadherin-10 (CDH10), is associated with pancreatic ductal adenocarcinomas.Genes Chromosomes Cancer. 2017 May;56(5):427-435. doi: 10.1002/gcc.22447. Epub 2017 Mar 7.
10 The genetics of FANCC and FANCG in familial pancreatic cancer.Cancer Biol Ther. 2004 Feb;3(2):167-9. doi: 10.4161/cbt.3.2.609. Epub 2004 Feb 1.
11 Hereditary pancreatic cancer: molecular bases and their application in diagnosis and clinical management: a guideline of the TTD group.Clin Transl Oncol. 2012 Aug;14(8):553-63. doi: 10.1007/s12094-012-0840-0. Epub 2012 Jul 19.
12 Prevalence and Progression of Pancreatic Cystic Precursor Lesions Differ Between Groups at High Risk of Developing Pancreatic Cancer.Pancreas. 2017 Jan;46(1):28-34. doi: 10.1097/MPA.0000000000000725.
13 A novel STK11 germline mutation in two siblings with Peutz-Jeghers syndrome complicated by primary gastric cancer. Clin Genet. 2005 Jan;67(1):81-6. doi: 10.1111/j.1399-0004.2005.00380.x.