PNCA4
MCID: PNC103
MIFTS: 25

Pancreatic Cancer 4 (PNCA4)

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

Aliases & Classifications for Pancreatic Cancer 4

MalaCards integrated aliases for Pancreatic Cancer 4:

Name: Pancreatic Cancer 4 57 72 29 6
Pancreatic Cancer, Susceptibility to, 4 57 13
Pnca4 57 72
Cancer, Pancreatic, Susceptibility to, Type 4 39

Classifications:



External Ids:

OMIM® 57 614320
MeSH 44 D010190

Summaries for Pancreatic Cancer 4

UniProtKB/Swiss-Prot : 72 Pancreatic cancer 4: 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.

MalaCards based summary : Pancreatic Cancer 4, also known as pancreatic cancer, susceptibility to, 4, is related to pancreatic cancer and adenocarcinoma. An important gene associated with Pancreatic Cancer 4 is BRCA1 (BRCA1 DNA Repair Associated). Affiliated tissues include pancreas and breast.

More information from OMIM: 614320

Related Diseases for Pancreatic Cancer 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Pancreatic Cancer 4

Clinical features from OMIM®:

614320 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pancreatic Cancer 4

Search Clinical Trials , NIH Clinical Center for Pancreatic Cancer 4

Genetic Tests for Pancreatic Cancer 4

Genetic tests related to Pancreatic Cancer 4:

# Genetic test Affiliating Genes
1 Pancreatic Cancer 4 29 BRCA1

Anatomical Context for Pancreatic Cancer 4

MalaCards organs/tissues related to Pancreatic Cancer 4:

40
Pancreas, Breast

Publications for Pancreatic Cancer 4

Articles related to Pancreatic Cancer 4:

(show all 45)
# Title Authors PMID Year
1
Germline BRCA1 mutations predispose to pancreatic adenocarcinoma. 57 6
18762988 2008
2
Maintenance Olaparib for Germline BRCA-Mutated Metastatic Pancreatic Cancer. 57
31157963 2019
3
BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 57
25356972 2015
4
The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. 6
16941470 2006
5
Haplotype analysis of a BRCA1: 185delAG mutation in a Chilean family supports its Ashkenazi origins. 6
12220453 2002
6
BRCA1 gene mutations in women with papillary serous carcinoma of the peritoneum. 6
9764635 1998
7
Molecular evidence for multifocal papillary serous carcinoma of the peritoneum in patients with germline BRCA1 mutations. 6
9625172 1998
8
The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. 6
9536083 1998
9
Could the 185delAG BRCA1 mutation be an ancient Jewish mutation? 6
9450187 1997
10
Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. 6
8841191 1996
11
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. 6
7550349 1995
12
Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. 6
7894492 1994
13
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 57
7545954 1994
14
Development of a Novel Multiparametric MRI Radiomic Nomogram for Preoperative Evaluation of Early Recurrence in Resectable Pancreatic Cancer. 61
31867839 2020
15
Pancreatic Fibrosis and Chronic Pancreatitis: Mini-Review of Non-Histologic Diagnosis for Clinical Applications. 61
32045995 2020
16
Conversion surgery for initially unresectable pancreatic ductal adenocarcinoma with synchronous liver metastasis after treatment with FOLFIRINOX. 61
30993652 2019
17
Patterns of Recurrence After Resection of Pancreatic Ductal Adenocarcinoma: A Secondary Analysis of the ESPAC-4 Randomized Adjuvant Chemotherapy Trial. 61
31483448 2019
18
Targeting Mechanoresponsive Proteins in Pancreatic Cancer: 4-Hydroxyacetophenone Blocks Dissemination and Invasion by Activating MYH14. 61
31358530 2019
19
The Surgical Outcomes of Totally Laparoscopic Stomach-partitioning Gastrojejunostomy for Gastric Outlet Obstruction: A Retrospective, Cohort Study. 61
29252935 2018
20
A case of pancreatic cancer with severe vomiting treated by endoscopic ultrasound-guided celiac ganglia neurolysis. 61
28815450 2017
21
Male Breast Cancer. 61
28171879 2017
22
Updated therapeutic outcome for patients with periampullary and pancreatic cancer related to recent translational research. 61
28082802 2016
23
Possible association between hepatitis C virus and malignancies different from hepatocellular carcinoma: A systematic review. 61
26668515 2015
24
Resection of metachronous pancreatic cancer 4 years after pancreaticoduodenectomy for stage III pancreatic adenocarcinoma. 61
26419361 2015
25
Folate intake and pancreatic cancer risk: an overall and dose-response meta-analysis. 61
23769243 2013
26
DPC4 expression in the small intestinal adenocarcinomas. 61
23136567 2012
27
Pancreatic cancer and diabetes. 61
23393682 2012
28
A case of pancreatic cancer after heart transplantation. 61
22790692 2012
29
Novel tumor suppressive function of Smad4 in serum starvation-induced cell death through PAK1-PUMA pathway. 61
22130069 2011
30
Physical activity and pancreatic cancer risk: a systematic review. 61
18843009 2008
31
In situ telomerase activity in pancreatic juice may discriminate pancreatic cancer from other pancreatic diseases. 61
18362835 2008
32
Usefulness of diffusion-weighted imaging (DWI) for the detection of pancreatic cancer: 4 case reports. 61
18507125 2008
33
[The first report from Sapporo Tsukisamu Hospital--chemotherapy and chemoradiotherapy for patients with advanced pancreatic cancer]. 61
17637542 2007
34
Pathogenesis of colorectal carcinoma and therapeutic implications: the roles of the ubiquitin-proteasome system and Cox-2. 61
17488476 2007
35
Contrast-enhanced ultrasonography depicts small tumor vessels for the evaluation of pancreatic tumors. 61
17049428 2007
36
[Long-term repeatable chemotherapy for patients with advanced pancreatic cancer]. 61
16898005 2006
37
Nutritional links to plausible mechanisms underlying pancreatic cancer: a conference report. 61
14576500 2003
38
Frequent loss of SMAD4/DPC4 protein in colorectal cancers. 61
12077092 2002
39
[Familial pancreatic cancer--concept for study of the National Case Collection and early diagnosis program for high risk people]. 61
12068743 2002
40
Infrequent DPC4 gene mutation in esophageal cancer, gastric cancer and ulcerative colitis-associated neoplasms. 61
8957088 1996
41
Recombinant human tumor necrosis factor causes regression in patients with advanced malignancies. 61
8208522 1994
42
Serum lipase assay. A test of choice in acute pancreatitis. 61
1589255 1992
43
[An anatomical and pathological study of autopsy material on the metastasis of pancreatic cancer to para-aortic lymph nodes]. 61
3600584 1987
44
Pancreatic carcinogenicity of N-nitrosobis(2-oxopropyl)-amine in diabetic and non-diabetic Chinese hamsters. 61
3815330 1987
45
Induction of cytochromes P-450 in pancreatic disease: consequence, coincidence or cause? 61
4064344 1985

Variations for Pancreatic Cancer 4

ClinVar genetic disease variations for Pancreatic Cancer 4:

6 (show all 46)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRCA1 NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) SNV Pathogenic 55221 rs80356885 GRCh37: 17:41226499-41226499
GRCh38: 17:43074482-43074482
2 BRCA1 NM_007294.4(BRCA1):c.4485-1G>A SNV Pathogenic 55213 rs80358189 GRCh37: 17:41226539-41226539
GRCh38: 17:43074522-43074522
3 BRCA1 NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter) SNV Pathogenic 55039 rs80357440 GRCh37: 17:41243655-41243655
GRCh38: 17:43091638-43091638
4 BRCA1 NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) SNV Pathogenic 54929 rs62625307 GRCh37: 17:41243950-41243950
GRCh38: 17:43091933-43091933
5 BRCA1 NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter) SNV Pathogenic 54565 rs80357350 GRCh37: 17:41256945-41256945
GRCh38: 17:43104928-43104928
6 BRCA1 NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) SNV Pathogenic 54200 rs80357446 GRCh37: 17:41267746-41267746
GRCh38: 17:43115729-43115729
7 BRCA1 NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter) SNV Pathogenic 479243 rs886040898 GRCh37: 17:41267760-41267760
GRCh38: 17:43115743-43115743
8 BRCA1 NM_007294.4(BRCA1):c.3G>T (p.Met1Ile) SNV Pathogenic 55072 rs80357475 GRCh37: 17:41276111-41276111
GRCh38: 17:43124094-43124094
9 BRCA1 NM_007294.3(BRCA1):c.5194-12G>A SNV Pathogenic 55451 rs80358079 GRCh37: 17:41209164-41209164
GRCh38: 17:43057147-43057147
10 BRCA1 NM_007294.4(BRCA1):c.4675+1G>A SNV Pathogenic 55256 rs80358044 GRCh37: 17:41226347-41226347
GRCh38: 17:43074330-43074330
11 BRCA1 NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) SNV Pathogenic 17675 rs41293455 GRCh37: 17:41234451-41234451
GRCh38: 17:43082434-43082434
12 BRCA1 NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) SNV Pathogenic 54657 rs80356978 GRCh37: 17:41244826-41244826
GRCh38: 17:43092809-43092809
13 BRCA1 NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) SNV Pathogenic 37426 rs80356898 GRCh37: 17:41245861-41245861
GRCh38: 17:43093844-43093844
14 BRCA1 NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) SNV Pathogenic 17693 rs80357382 GRCh37: 17:41258474-41258474
GRCh38: 17:43106457-43106457
15 BRCA1 NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) SNV Pathogenic 17661 rs28897672 GRCh37: 17:41258504-41258504
GRCh38: 17:43106487-43106487
16 BRCA1 NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) SNV Pathogenic 55580 rs80356962 GRCh37: 17:41199683-41199683
GRCh38: 17:43047666-43047666
17 BRCA1 NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) SNV Pathogenic 55480 rs80357123 GRCh37: 17:41209095-41209095
GRCh38: 17:43057078-43057078
18 BRCA1 NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter) SNV Pathogenic 91620 rs80357202 GRCh37: 17:41243494-41243494
GRCh38: 17:43091477-43091477
19 BRCA1 NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter) SNV Pathogenic 54769 rs273899698 GRCh37: 17:41244451-41244451
GRCh38: 17:43092434-43092434
20 BRCA1 NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter) SNV Pathogenic 266592 rs879255498 GRCh37: 17:41246623-41246623
GRCh38: 17:43094606-43094606
21 BRCA1 NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) SNV Pathogenic 54131 rs80356880 GRCh37: 17:41267767-41267767
GRCh38: 17:43115750-43115750
22 BRCA1 NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) SNV Pathogenic 17675 rs41293455 GRCh37: 17:41234451-41234451
GRCh38: 17:43082434-43082434
23 BRCA1 NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) Microsatellite risk factor 17662 rs80357914 GRCh37: 17:41276045-41276046
GRCh38: 17:43124028-43124029
24 BRCA1 NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg) SNV Uncertain significance 55739 rs80357039 GRCh37: 17:41246697-41246697
GRCh38: 17:43094680-43094680
25 BRCA1 NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu) SNV Uncertain significance 240792 rs80357136 GRCh37: 17:41244145-41244145
GRCh38: 17:43092128-43092128
26 BRCA1 NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala) SNV Uncertain significance 531214 rs1555588389 GRCh37: 17:41244444-41244444
GRCh38: 17:43092427-43092427
27 BRCA1 NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met) SNV Uncertain significance 185698 rs786202386 GRCh37: 17:41245803-41245803
GRCh38: 17:43093786-43093786
28 BRCA1 NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu) SNV Uncertain significance 54227 rs62625300 GRCh37: 17:41246167-41246167
GRCh38: 17:43094150-43094150
29 BRCA1 NM_007294.4(BRCA1):c.527C>T (p.Thr176Met) SNV Uncertain significance 409326 rs587782747 GRCh37: 17:41251812-41251812
GRCh38: 17:43099795-43099795
30 BRCA1 NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) SNV Uncertain significance 37594 rs397507233 GRCh37: 17:41251893-41251893
GRCh38: 17:43099876-43099876
31 BRCA1 NM_007294.4(BRCA1):c.20G>A (p.Arg7His) SNV Uncertain significance 184875 rs144792613 GRCh37: 17:41276094-41276094
GRCh38: 17:43124077-43124077
32 BRCA1 NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val) SNV Uncertain significance 141804 rs587782026 GRCh37: 17:41197817-41197817
GRCh38: 17:43045800-43045800
33 BRCA1 NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) SNV Uncertain significance 55370 rs397507239 GRCh37: 17:41219631-41219631
GRCh38: 17:43067614-43067614
34 BRCA1 NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) SNV Uncertain significance 531444 rs1555579648 GRCh37: 17:41219643-41219643
GRCh38: 17:43067626-43067626
35 BRCA1 NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) SNV Uncertain significance 433716 rs1265352633 GRCh37: 17:41226369-41226369
GRCh38: 17:43074352-43074352
36 BRCA1 NM_007294.4(BRCA1):c.4231A>G (p.Met1411Val) SNV Uncertain significance 141465 rs587781768 GRCh37: 17:41234547-41234547
GRCh38: 17:43082530-43082530
37 BRCA1 NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) SNV Uncertain significance 54953 rs273900712 GRCh37: 17:41243899-41243899
GRCh38: 17:43091882-43091882
38 BRCA1 NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp) SNV Uncertain significance 89059 rs587779368 GRCh37: 17:41243993-41243993
GRCh38: 17:43091976-43091976
39 BRCA1 NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) SNV Uncertain significance 54878 rs80357101 GRCh37: 17:41244124-41244124
GRCh38: 17:43092107-43092107
40 BRCA1 NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly) SNV Uncertain significance 182076 rs730881442 GRCh37: 17:41246289-41246289
GRCh38: 17:43094272-43094272
41 BRCA1 NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr) SNV Uncertain significance 496362 rs80357386 GRCh37: 17:41244468-41244468
GRCh38: 17:43092451-43092451
42 BRCA1 NM_007294.4(BRCA1):c.2663A>C (p.His888Pro) SNV Uncertain significance 230920 rs876658843 GRCh37: 17:41244885-41244885
GRCh38: 17:43092868-43092868
43 BRCA1 NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser) SNV Uncertain significance 54447 rs397508934 GRCh37: 17:41245498-41245498
GRCh38: 17:43093481-43093481
44 BRCA1 NM_007294.3(BRCA1):c.4096+3A>G SNV Uncertain significance 37566 rs80358015 GRCh37: 17:41243449-41243449
GRCh38: 17:43091432-43091432
45 BRCA1 NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) SNV Benign 41815 rs16941 GRCh37: 17:41244435-41244435
GRCh38: 17:43092418-43092418
46 BRCA1 NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) SNV Benign 125554 rs16940 GRCh37: 17:41245237-41245237
GRCh38: 17:43093220-43093220

Expression for Pancreatic Cancer 4

Search GEO for disease gene expression data for Pancreatic Cancer 4.

Pathways for Pancreatic Cancer 4

GO Terms for Pancreatic Cancer 4

Sources for Pancreatic Cancer 4

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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