PNCA1
MCID: PNC094
MIFTS: 27

Pancreatic Cancer 1 (PNCA1)

Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Pancreatic Cancer 1

MalaCards integrated aliases for Pancreatic Cancer 1:

Name: Pancreatic Cancer 1 57 73
Pancreatic Cancer, Susceptibility to, 1 57 28 12 5
Pnca1 57 73
Cancer, Pancreatic, Susceptibility to, Type 1 38

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 606856
MeSH 43 D010190
MedGen 40 C1847351
SNOMED-CT via HPO 69 700423003

Summaries for Pancreatic Cancer 1

UniProtKB/Swiss-Prot: 73 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 1, is also known as pancreatic cancer, susceptibility to, 1. An important gene associated with Pancreatic Cancer 1 is PALLD (Palladin, Cytoskeletal Associated Protein). Affiliated tissues include pancreas, pineal and whole blood, and related phenotype is pancreatic adenocarcinoma.

More information from OMIM: 606856

Related Diseases for Pancreatic Cancer 1

Symptoms & Phenotypes for Pancreatic Cancer 1

Human phenotypes related to Pancreatic Cancer 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pancreatic adenocarcinoma 30 HP:0006725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Abdomen Pancreas:
pancreatitis
branch duct irregularities
adenocarcinoma of the pancreas

Neoplasia:
adenocarcinoma of the pancreas

Clinical features from OMIM®:

606856 (Updated 24-Oct-2022)

Drugs & Therapeutics for Pancreatic Cancer 1

Search Clinical Trials, NIH Clinical Center for Pancreatic Cancer 1

Genetic Tests for Pancreatic Cancer 1

Genetic tests related to Pancreatic Cancer 1:

# Genetic test Affiliating Genes
1 Pancreatic Cancer, Susceptibility to, 1 28 PALLD

Anatomical Context for Pancreatic Cancer 1

Organs/tissues related to Pancreatic Cancer 1:

MalaCards : Pancreas, Pineal, Whole Blood, Lung

Publications for Pancreatic Cancer 1

Articles related to Pancreatic Cancer 1:

(show top 50) (show all 59)
# Title Authors PMID Year
1
The P239S palladin variant does not account for a significant fraction of hereditary or early onset pancreas cancer. 57 5
17415588 2007
2
Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism. 57 5
17194196 2006
3
A new susceptibility locus for autosomal dominant pancreatic cancer maps to chromosome 4q32-34. 57
11870593 2002
4
Familial fibrocystic pancreatic atrophy with endocrine cell hyperplasia and pancreatic carcinoma. 57
11474289 2001
5
Prevention of pancreatic cancer and strategies for management of familial pancreatic cancer. 57
11385254 2001
6
Inheritance of pancreatic cancer in pancreatic cancer-prone families. 57
10872424 2000
7
Early diagnosis and treatment of pancreatic dysplasia in patients with a family history of pancreatic cancer. 57
10454945 1999
8
Familial pancreatic cancer: clinicopathologic study of 18 nuclear families. 57
2296965 1990
9
A Novel Scoring System to Improve the Detection Efficiency of Pancreatic Cystic Lesions in the General Population. 62
35831108 2022
10
Comprehensive Analysis of Somatic Reversion Mutations in Homologous Recombination Repair (HRR) Genes in A Large Cohort of Chinese Pan-cancer Patients. 62
35281878 2022
11
Response Rates to Anti-PD-1 Immunotherapy in Microsatellite-Stable Solid Tumors With 10 or More Mutations per Megabase. 62
33599686 2021
12
Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants. 62
31285527 2019
13
The Role of Endoscopic Ultrasonography and Magnetic Resonance Cholangiopancreatography in Patients With Acute Pancreatitis After Negative Computed Tomography Findings of the Etiology. 62
30142119 2018
14
On the significance of Tim-3 expression in pancreatic cancer. 62
29551917 2017
15
Comparison of treatment patterns and economic outcomes among metastatic pancreatic cancer patients initiated on nab-paclitaxel plus gemcitabine versus FOLFIRINOX. 62
28795609 2017
16
A phase I trial of azacitidine and nanoparticle albumin bound paclitaxel in patients with advanced or metastatic solid tumors. 62
28881739 2017
17
Diagnostic accuracy of diffusion-weighted whole-body imaging with background body signal suppression/T2-weighted image fusion for the detection of abdominal solid cancer. 62
28587434 2017
18
Adverse Reaction to Cetuximab, an Epidermal Growth Factor Receptor Inhibitor. 62
27149134 2016
19
Nut consumption and risk of cancer and type 2 diabetes: a systematic review and meta-analysis. 62
26081452 2015
20
Intraductal Ultrasonography without Radiocontrast Cholangiogramin Patients with Extrahepatic Biliary Disease. 62
25963077 2015
21
Posterior 'superior mesenteric artery first' approach for resection of locally advanced pancreatic cancer. 62
24370905 2014
22
Combined online and offline adaptive radiation therapy: a dosimetric feasibility study. 62
24621436 2014
23
MicroRNA biomarkers in whole blood for detection of pancreatic cancer. 62
24449318 2014
24
Prevalence and progression of acute pancreatitis in the Świętokrzyskie Voivodeship population. 62
23399628 2012
25
Real-world impact of availability of adjuvant therapy on outcomes in patients with resected pancreatic adenocarcinoma: a Canadian Cancer Agency experience. 62
21358297 2012
26
Quality of life in patients with pancreatic cancer. 62
22406597 2012
27
Preliminary study analyzing the methylated genes in the plasma of patients with pancreatic cancer. 62
22414467 2012
28
A preoperative predictive scoring system for postoperative pancreatic fistula after pancreaticoduodenectomy. 62
21913138 2011
29
Novel diagnostic value of circulating miR-18a in plasma of patients with pancreatic cancer. 62
22045190 2011
30
[Postoperative adjuvant treatment for pancreatic cancer: present status and future perspective]. 62
21918335 2011
31
[Postoperative adjuvant treatment for pancreatic cancer]. 62
21688463 2011
32
Phase I trial of hedgehog pathway inhibitor vismodegib (GDC-0449) in patients with refractory, locally advanced or metastatic solid tumors. 62
21300762 2011
33
Routine needle biopsy during vertebral augmentation procedures. Is it necessary? 62
20372942 2010
34
Identification of a novel antibody associated with autoimmune pancreatitis. 62
19940298 2009
35
Results and patterns of failure in patients treated with adjuvant combined chemoradiation therapy for resected pancreatic adenocarcinoma. 62
19514088 2009
36
Examination of external validity in randomized controlled trials for adjuvant treatment of pancreatic adenocarcinoma. 62
19287330 2009
37
Gastric emptying in patients with palliative stenting for malignant gastric outlet obstruction. 62
18507129 2008
38
Adjuvant therapy for pancreatic cancer: a review. 62
18050292 2008
39
[Assessment of the value of PEF (cisplatin, epirubicin, 5 fluorouracil) in advanced extrahepatic biliary tract and pancreatic cancer]. 62
19441672 2008
40
Do sporadic Peutz-Jeghers polyps exist? Experience of a large teaching hospital. 62
17667545 2007
41
Analysis of hTERT mRNA expression in biliary tract and pancreatic cancer. 62
17384912 2007
42
Adjuvant therapy in pancreatic cancer: a critical appraisal. 62
17983252 2007
43
Pancreatic cancer: a review of recent advances. 62
17040199 2006
44
Folate intake, MTHFR polymorphisms, and risk of esophageal, gastric, and pancreatic cancer: a meta-analysis. 62
17030196 2006
45
Adjuvant and neoadjuvant approaches to treat surgically resectable pancreatic cancer. 62
16904055 2006
46
Adjuvant treatment for resectable pancreatic cancer. 62
16002844 2005
47
Feasibility study of adoptive immunotherapy for metastatic lung tumors using peptide-pulsed dendritic cell-activated killer (PDAK) cells. 62
16080467 2005
48
Intravenous vitamin C as a chemotherapy agent: a report on clinical cases. 62
15377059 2004
49
A randomized trial of chemoradiotherapy and chemotherapy after resection of pancreatic cancer. 62
15028824 2004
50
Detection of type IV collagenase activity in malignant ascites. 62
14606104 2003

Variations for Pancreatic Cancer 1

ClinVar genetic disease variations for Pancreatic Cancer 1:

5 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PALLD NM_001166108.2(PALLD):c.1965-12616C>T SNV Risk Factor
2572 rs121908291 GRCh37: 4:169799457-169799457
GRCh38: 4:168878306-168878306
2 PALLD NM_001166108.2(PALLD):c.1129A>G (p.Lys377Glu) SNV Uncertain Significance
902977 rs368684220 GRCh37: 4:169602524-169602524
GRCh38: 4:168681373-168681373
3 PALLD NM_001166108.2(PALLD):c.1260+8T>C SNV Uncertain Significance
902978 rs887513464 GRCh37: 4:169604262-169604262
GRCh38: 4:168683111-168683111
4 CBR4, PALLD NM_001166108.2(PALLD):c.*386T>C SNV Uncertain Significance
903035 rs575876255 GRCh37: 4:169847717-169847717
GRCh38: 4:168926566-168926566
5 CBR4, PALLD NM_001166108.2(PALLD):c.*400T>C SNV Uncertain Significance
903036 rs748402946 GRCh37: 4:169847731-169847731
GRCh38: 4:168926580-168926580
6 CBR4, PALLD NM_001166108.2(PALLD):c.*439T>C SNV Uncertain Significance
903037 rs972893704 GRCh37: 4:169847770-169847770
GRCh38: 4:168926619-168926619
7 CBR4, PALLD NM_001166108.2(PALLD):c.*461G>A SNV Uncertain Significance
903038 rs939786378 GRCh37: 4:169847792-169847792
GRCh38: 4:168926641-168926641
8 CBR4, PALLD NM_001166108.2(PALLD):c.*2171T>C SNV Uncertain Significance
903089 rs548951283 GRCh37: 4:169849502-169849502
GRCh38: 4:168928351-168928351
9 CBR4, PALLD NM_001166108.2(PALLD):c.*1757T>G SNV Uncertain Significance
348061 rs886059214 GRCh37: 4:169849088-169849088
GRCh38: 4:168927937-168927937
10 CBR4, PALLD NM_001166108.2(PALLD):c.*1792T>A SNV Uncertain Significance
348064 rs186567215 GRCh37: 4:169849123-169849123
GRCh38: 4:168927972-168927972
11 PALLD NM_001166108.2(PALLD):c.-172C>A SNV Uncertain Significance
348019 rs777479051 GRCh37: 4:169418256-169418256
GRCh38: 4:168497105-168497105
12 PALLD NM_001166108.2(PALLD):c.428G>A (p.Arg143His) SNV Uncertain Significance
348030 rs149345491 GRCh37: 4:169433083-169433083
GRCh38: 4:168511932-168511932
13 PALLD NM_001166108.2(PALLD):c.1433G>A (p.Gly478Glu) SNV Uncertain Significance
348039 rs201816881 GRCh37: 4:169611851-169611851
GRCh38: 4:168690700-168690700
14 CBR4, PALLD NM_001166108.2(PALLD):c.*908A>G SNV Uncertain Significance
348053 rs886059212 GRCh37: 4:169848239-169848239
GRCh38: 4:168927088-168927088
15 CBR4, PALLD NM_001166108.2(PALLD):c.*2070G>C SNV Uncertain Significance
348070 rs886059217 GRCh37: 4:169849401-169849401
GRCh38: 4:168928250-168928250
16 CBR4, PALLD NM_001166108.2(PALLD):c.*2168C>A SNV Uncertain Significance
348076 rs886059221 GRCh37: 4:169849499-169849499
GRCh38: 4:168928348-168928348
17 CBR4, PALLD NM_001166108.2(PALLD):c.*1808C>T SNV Uncertain Significance
348065 rs539762995 GRCh37: 4:169849139-169849139
GRCh38: 4:168927988-168927988
18 CBR4, PALLD NM_001166108.2(PALLD):c.*2022A>G SNV Uncertain Significance
348068 rs886059216 GRCh37: 4:169849353-169849353
GRCh38: 4:168928202-168928202
19 CBR4, PALLD NM_001166108.2(PALLD):c.*2184G>A SNV Uncertain Significance
348077 rs769635594 GRCh37: 4:169849515-169849515
GRCh38: 4:168928364-168928364
20 PALLD NM_001166108.2(PALLD):c.1926C>G (p.Pro642=) SNV Uncertain Significance
348042 rs886059210 GRCh37: 4:169633036-169633036
GRCh38: 4:168711885-168711885
21 CBR4, PALLD NM_001166108.2(PALLD):c.*1131T>G SNV Uncertain Significance
348057 rs773353973 GRCh37: 4:169848462-169848462
GRCh38: 4:168927311-168927311
22 PALLD NM_001166108.2(PALLD):c.-178G>A SNV Uncertain Significance
348018 rs886059207 GRCh37: 4:169418250-169418250
GRCh38: 4:168497099-168497099
23 CBR4, PALLD NM_001166108.2(PALLD):c.*1787T>C SNV Uncertain Significance
348063 rs886059215 GRCh37: 4:169849118-169849118
GRCh38: 4:168927967-168927967
24 PALLD NM_001166108.2(PALLD):c.836G>C (p.Ser279Thr) SNV Uncertain Significance
348034 rs886059209 GRCh37: 4:169433491-169433491
GRCh38: 4:168512340-168512340
25 PALLD NM_001166108.2(PALLD):c.1219A>T (p.Thr407Ser) SNV Uncertain Significance
348035 rs775730191 GRCh37: 4:169604213-169604213
GRCh38: 4:168683062-168683062
26 PALLD NM_001166108.2(PALLD):c.-143A>G SNV Uncertain Significance
348021 rs571957605 GRCh37: 4:169418285-169418285
GRCh38: 4:168497134-168497134
27 PALLD NM_001166108.2(PALLD):c.-83+9G>A SNV Uncertain Significance
348023 rs150719521 GRCh37: 4:169418354-169418354
GRCh38: 4:168497203-168497203
28 CBR4, PALLD NM_001166108.2(PALLD):c.*2166A>G SNV Uncertain Significance
348075 rs886059220 GRCh37: 4:169849497-169849497
GRCh38: 4:168928346-168928346
29 PALLD NM_001166108.2(PALLD):c.1957C>A (p.Pro653Thr) SNV Uncertain Significance
900486 rs1784873065 GRCh37: 4:169633067-169633067
GRCh38: 4:168711916-168711916
30 CBR4, PALLD NM_001166108.2(PALLD):c.*1655A>T SNV Uncertain Significance
900539 rs976050795 GRCh37: 4:169848986-169848986
GRCh38: 4:168927835-168927835
31 CBR4, PALLD NM_001166108.2(PALLD):c.*1713T>C SNV Uncertain Significance
900540 rs765552955 GRCh37: 4:169849044-169849044
GRCh38: 4:168927893-168927893
32 PALLD NM_001166108.2(PALLD):c.1571G>T (p.Arg524Ile) SNV Uncertain Significance
900423 rs776908136 GRCh37: 4:169630248-169630248
GRCh38: 4:168709097-168709097
33 PALLD NM_001166108.2(PALLD):c.1616C>T (p.Thr539Ile) SNV Uncertain Significance
900424 rs780510622 GRCh37: 4:169630293-169630293
GRCh38: 4:168709142-168709142
34 PALLD NM_001166108.2(PALLD):c.574A>G (p.Ser192Gly) SNV Uncertain Significance
901518 rs1762575507 GRCh37: 4:169433229-169433229
GRCh38: 4:168512078-168512078
35 PALLD NM_001166108.2(PALLD):c.-135A>G SNV Uncertain Significance
902039 rs540285834 GRCh37: 4:169418293-169418293
GRCh38: 4:168497142-168497142
36 PALLD NM_001166108.2(PALLD):c.-115C>G SNV Uncertain Significance
902040 rs189011214 GRCh37: 4:169418313-169418313
GRCh38: 4:168497162-168497162
37 PALLD NM_001166108.2(PALLD):c.860G>A (p.Arg287Gln) SNV Uncertain Significance
902099 rs141283998 GRCh37: 4:169433515-169433515
GRCh38: 4:168512364-168512364
38 PALLD NM_001166108.2(PALLD):c.908+3A>G SNV Uncertain Significance
902100 rs1762604026 GRCh37: 4:169433566-169433566
GRCh38: 4:168512415-168512415
39 PALLD NM_001166108.2(PALLD):c.946G>T (p.Asp316Tyr) SNV Uncertain Significance
902101 rs1477916241 GRCh37: 4:169589378-169589378
GRCh38: 4:168668227-168668227
40 CBR4, PALLD NM_001166108.2(PALLD):c.2686C>T (p.Arg896Trp) SNV Uncertain Significance
902155 rs772889018 GRCh37: 4:169835141-169835141
GRCh38: 4:168913990-168913990
41 CBR4, PALLD NM_001166108.2(PALLD):c.*2027T>C SNV Uncertain Significance
902207 rs192990293 GRCh37: 4:169849358-169849358
GRCh38: 4:168928207-168928207
42 CBR4, PALLD NM_001166108.2(PALLD):c.*2141A>G SNV Uncertain Significance
902208 rs962914167 GRCh37: 4:169849472-169849472
GRCh38: 4:168928321-168928321
43 PALLD NM_001166108.2(PALLD):c.639C>A (p.Ala213=) SNV Uncertain Significance
901520 rs1762581096 GRCh37: 4:169433294-169433294
GRCh38: 4:168512143-168512143
44 PALLD NM_001166108.2(PALLD):c.721C>T (p.His241Tyr) SNV Uncertain Significance
901521 rs1490249027 GRCh37: 4:169433376-169433376
GRCh38: 4:168512225-168512225
45 PALLD NM_001166108.2(PALLD):c.107A>G (p.Gln36Arg) SNV Uncertain Significance
902927 rs889514388 GRCh37: 4:169432762-169432762
GRCh38: 4:168511611-168511611
46 PALLD NM_001166108.2(PALLD):c.222C>T (p.Ser74=) SNV Uncertain Significance
902929 rs201038000 GRCh37: 4:169432877-169432877
GRCh38: 4:168511726-168511726
47 PALLD NM_001166108.2(PALLD):c.229G>C (p.Glu77Gln) SNV Likely Benign
902930 rs376732578 GRCh37: 4:169432884-169432884
GRCh38: 4:168511733-168511733
48 PALLD NM_001166108.2(PALLD):c.1011C>A (p.Asp337Glu) SNV Likely Benign
902976 rs763283965 GRCh37: 4:169589443-169589443
GRCh38: 4:168668292-168668292
49 PALLD NM_001166108.2(PALLD):c.608G>T (p.Gly203Val) SNV Likely Benign
901519 rs770458533 GRCh37: 4:169433263-169433263
GRCh38: 4:168512112-168512112
50 PALLD NM_001166108.2(PALLD):c.1842T>A (p.His614Gln) SNV Likely Benign
348041 rs150443035 GRCh37: 4:169632952-169632952
GRCh38: 4:168711801-168711801

Expression for Pancreatic Cancer 1

Search GEO for disease gene expression data for Pancreatic Cancer 1.

Pathways for Pancreatic Cancer 1

GO Terms for Pancreatic Cancer 1

Sources for Pancreatic Cancer 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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