PNCA5
MCID: PNC132
MIFTS: 22

Pancreatic Cancer 5 (PNCA5)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Pancreatic Cancer 5

MalaCards integrated aliases for Pancreatic Cancer 5:

Name: Pancreatic Cancer 5 57 73
Pancreatic Cancer, Susceptibility to, 5 57 6
Pnca5 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on a report of one 4-generation family (last curated november 2019)
family members may have more than 1 primary cancer
age of onset for pancreatic ductal cancer, 48-80 years
age of onset for melanoma, 30-48 years
age of onset for breast cancer, 50-65 years
age of onset for colon cancer, 37-61 years
age of onset for cns tumors, 71


HPO:

31
pancreatic cancer 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618680
MeSH 44 D010190

Summaries for Pancreatic Cancer 5

OMIM® : 57 Susceptibility to pancreatic ductal adenocarcinoma (PDAC) may be conferred by mutation in RABL3. Other cancers, including melanoma, breast cancer, and colon cancer, have been reported in RABL3 mutation-carrying individuals, with or without PDAC (Nissim et al., 2019). For background, phenotypic description, and a discussion of genetic heterogeneity of pancreatic carcinoma, see 260350. (618680) (Updated 05-Mar-2021)

MalaCards based summary : Pancreatic Cancer 5, also known as pancreatic cancer, susceptibility to, 5, is related to pancreatic cancer and pancreatic ductal adenocarcinoma. An important gene associated with Pancreatic Cancer 5 is RABL3 (RAB, Member Of RAS Oncogene Family Like 3). Affiliated tissues include colon, pancreas and breast, and related phenotypes are melanoma and pancreatic adenocarcinoma

UniProtKB/Swiss-Prot : 73 Pancreatic cancer 5: A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue.

Related Diseases for Pancreatic Cancer 5

Diseases in the Pancreatic Cancer family:

Pancreatic Cancer 1 Pancreatic Cancer 2
Pancreatic Cancer 3 Pancreatic Cancer 4
Pancreatic Cancer 5

Diseases related to Pancreatic Cancer 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pancreatic cancer 10.1
2 pancreatic ductal adenocarcinoma 9.9

Symptoms & Phenotypes for Pancreatic Cancer 5

Human phenotypes related to Pancreatic Cancer 5:

31
# Description HPO Frequency HPO Source Accession
1 melanoma 31 HP:0002861
2 pancreatic adenocarcinoma 31 HP:0006725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neoplasia:
melanoma
colon cancer
breast cancer
pancreatic ductal adenocarcinoma
central nervous system (cns) tumors

Clinical features from OMIM®:

618680 (Updated 05-Mar-2021)

Drugs & Therapeutics for Pancreatic Cancer 5

Search Clinical Trials , NIH Clinical Center for Pancreatic Cancer 5

Genetic Tests for Pancreatic Cancer 5

Anatomical Context for Pancreatic Cancer 5

MalaCards organs/tissues related to Pancreatic Cancer 5:

40
Colon, Pancreas, Breast

Publications for Pancreatic Cancer 5

Articles related to Pancreatic Cancer 5:

(show all 27)
# Title Authors PMID Year
1
Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer. 57 6
31406347 2019
2
Noncutaneous and Cutaneous Cancer Risk in Patients With Atopic Dermatitis: A Systematic Review and Meta-analysis. 61
31825457 2020
3
The key role of pancreatic fibrosis severity in the surgical treatment algorithm of patients with chronic pancreatitis. 61
32248151 2020
4
Clinical Limitations of Photon, Proton and Carbon Ion Therapy for Pancreatic Cancer. 61
31936565 2020
5
Factors Associated with Malignant Biliary Strictures in Patients with Atypical or Suspicious Cells on Brush Cytology. 61
30625267 2019
6
[The effect of circulating tumor cells on the survival of patients with pancreatic cancer 5-year results]. 61
29444581 2018
7
Ablation of Locally Advanced Pancreatic Cancer with Percutaneous Irreversible Electroporation: Results of the Phase I/II PANFIRE Study. 61
27604035 2017
8
Pancreatic Cancer Genetics. 61
26929738 2016
9
[Surgical therapy of pancreatic cancer - 5 years survival]. 61
26766155 2015
10
Patients with obstructive jaundice and biliary stricture ± mass lesion on imaging: prevalence of malignancy and potential role of EUS-FNA. 61
23340062 2013
11
[The evaluation of mortality in abdominal surgery of patients aged over 75. A retrospective study on a series of 111 cases]. 61
22276460 2011
12
Perioperative intra-arterial and systemic chemotherapy for pancreatic cancer. 61
21046268 2011
13
Efficacy of endoscopic ultrasound-guided celiac plexus block and celiac plexus neurolysis for managing abdominal pain associated with chronic pancreatitis and pancreatic cancer. 61
19826273 2010
14
Identification of a novel antibody associated with autoimmune pancreatitis. 61
19940298 2009
15
Fluorescence in situ hybridization to visualize genetic abnormalities in interphase cells of acinar cell carcinoma, ductal adenocarcinoma, and islet cell carcinoma of the pancreas. 61
19720778 2009
16
Role of ASC in hypoxia-mediated cell death in pancreatic cancer. 61
21479491 2008
17
Interaction between capecitabine and gemcitabine with warfarin in a patient with pancreatic cancer. 61
18981557 2008
18
Docetaxel as salvage therapy in highly pretreated and drug resistant gastrointestinal carcinomas. 61
21892332 2008
19
The agreement between measured and predicted resting energy expenditure in patients with pancreatic cancer: a pilot study. 61
14730120 2004
20
Nutritional links to plausible mechanisms underlying pancreatic cancer: a conference report. 61
14576500 2003
21
Advanced pancreatic cancer--5 years on. 61
12181237 2002
22
Chemoradiotherapy as preoperative treatment in locally advanced unresectable pancreatic cancer patients: results of a feasibility study. 61
10487547 1999
23
Study of the expression of the gene encoding Ki-67 antigen in human pancreatic cancer using non-radioactive in situ hybridization and immunohistochemistry. 61
9772421 1997
24
[Conservative treatment of complete distal pancreatic fistula]. 61
9297021 1997
25
[Chemotherapy for pancreatic cancer]. 61
8886035 1996
26
Production of monoclonal antibodies to serum antigens in colorectal carcinoma. 61
3286775 1988
27
Grey-scale ultrasonography in cholestatic jaundice. 61
761837 1979

Variations for Pancreatic Cancer 5

ClinVar genetic disease variations for Pancreatic Cancer 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RABL3 NM_173825.5(RABL3):c.107C>A (p.Ser36Ter) SNV risk factor 694664 rs200612497 3:120449574-120449574 3:120730727-120730727

UniProtKB/Swiss-Prot genetic disease variations for Pancreatic Cancer 5:

73
# Symbol AA change Variation ID SNP ID
1 RABL3 p.Arg184Gln VAR_083454 rs61756477

Expression for Pancreatic Cancer 5

Search GEO for disease gene expression data for Pancreatic Cancer 5.

Pathways for Pancreatic Cancer 5

GO Terms for Pancreatic Cancer 5

Sources for Pancreatic Cancer 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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