PNCA1
MCID: PNC094
MIFTS: 28

Pancreatic Cancer 1 (PNCA1)

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

Aliases & Classifications for Pancreatic Cancer 1

MalaCards integrated aliases for Pancreatic Cancer 1:

Name: Pancreatic Cancer 1 57 73 29 6
Pancreatic Cancer, Susceptibility to, 1 57 13
Pnca1 57 73
Cancer, Pancreatic, Susceptibility to, Type 1 39

Characteristics:

OMIM®:

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


HPO:

31
pancreatic cancer 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 606856
MeSH 44 D010190
MedGen 41 C1847351
SNOMED-CT via HPO 68 263681008 700423003

Summaries for Pancreatic Cancer 1

UniProtKB/Swiss-Prot : 73 Pancreatic cancer 1: 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 phenotypes are pancreatic adenocarcinoma and Increased ionizing radiation sensitivity

More information from OMIM: 606856

Related Diseases for Pancreatic Cancer 1

Symptoms & Phenotypes for Pancreatic Cancer 1

Human phenotypes related to Pancreatic Cancer 1:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Pancreas:
pancreatitis
branch duct irregularities
adenocarcinoma of the pancreas

Neoplasia:
adenocarcinoma of the pancreas

Clinical features from OMIM®:

606856 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Pancreatic Cancer 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased ionizing radiation sensitivity GR00232-A-1 8.32 PALLD

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 1 29 PALLD

Anatomical Context for Pancreatic Cancer 1

MalaCards organs/tissues related to Pancreatic Cancer 1:

40
Pancreas, Pineal, Whole Blood, Lung

Publications for Pancreatic Cancer 1

Articles related to Pancreatic Cancer 1:

(show top 50) (show all 57)
# Title Authors PMID Year
1
The P239S palladin variant does not account for a significant fraction of hereditary or early onset pancreas cancer. 57 6
17415588 2007
2
Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism. 6 57
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
Response Rates to Anti-PD-1 Immunotherapy in Microsatellite-Stable Solid Tumors With 10 or More Mutations per Megabase. 61
33599686 2021
10
Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants. 61
31285527 2019
11
The Role of Endoscopic Ultrasonography and Magnetic Resonance Cholangiopancreatography in Patients With Acute Pancreatitis After Negative Computed Tomography Findings of the Etiology. 61
30142119 2018
12
On the significance of Tim-3 expression in pancreatic cancer. 61
29551917 2017
13
Comparison of treatment patterns and economic outcomes among metastatic pancreatic cancer patients initiated on nab-paclitaxel plus gemcitabine versus FOLFIRINOX. 61
28795609 2017
14
A phase I trial of azacitidine and nanoparticle albumin bound paclitaxel in patients with advanced or metastatic solid tumors. 61
28881739 2017
15
Diagnostic accuracy of diffusion-weighted whole-body imaging with background body signal suppression/T2-weighted image fusion for the detection of abdominal solid cancer. 61
28587434 2017
16
Adverse Reaction to Cetuximab, an Epidermal Growth Factor Receptor Inhibitor. 61
27149134 2016
17
Nut consumption and risk of cancer and type 2 diabetes: a systematic review and meta-analysis. 61
26081452 2015
18
Intraductal Ultrasonography without Radiocontrast Cholangiogramin Patients with Extrahepatic Biliary Disease. 61
25963077 2015
19
Posterior 'superior mesenteric artery first' approach for resection of locally advanced pancreatic cancer. 61
24370905 2014
20
MicroRNA biomarkers in whole blood for detection of pancreatic cancer. 61
24449318 2014
21
Combined online and offline adaptive radiation therapy: a dosimetric feasibility study. 61
24621436 2014
22
Prevalence and progression of acute pancreatitis in the Świętokrzyskie Voivodeship population. 61
23399628 2012
23
Real-world impact of availability of adjuvant therapy on outcomes in patients with resected pancreatic adenocarcinoma: a Canadian Cancer Agency experience. 61
21358297 2012
24
Quality of life in patients with pancreatic cancer. 61
22406597 2012
25
Preliminary study analyzing the methylated genes in the plasma of patients with pancreatic cancer. 61
22414467 2012
26
A preoperative predictive scoring system for postoperative pancreatic fistula after pancreaticoduodenectomy. 61
21913138 2011
27
Novel diagnostic value of circulating miR-18a in plasma of patients with pancreatic cancer. 61
22045190 2011
28
[Postoperative adjuvant treatment for pancreatic cancer: present status and future perspective]. 61
21918335 2011
29
[Postoperative adjuvant treatment for pancreatic cancer]. 61
21688463 2011
30
Phase I trial of hedgehog pathway inhibitor vismodegib (GDC-0449) in patients with refractory, locally advanced or metastatic solid tumors. 61
21300762 2011
31
Routine needle biopsy during vertebral augmentation procedures. Is it necessary? 61
20372942 2010
32
Identification of a novel antibody associated with autoimmune pancreatitis. 61
19940298 2009
33
Results and patterns of failure in patients treated with adjuvant combined chemoradiation therapy for resected pancreatic adenocarcinoma. 61
19514088 2009
34
Examination of external validity in randomized controlled trials for adjuvant treatment of pancreatic adenocarcinoma. 61
19287330 2009
35
Gastric emptying in patients with palliative stenting for malignant gastric outlet obstruction. 61
18507129 2008
36
Adjuvant therapy for pancreatic cancer: a review. 61
18050292 2008
37
[Assessment of the value of PEF (cisplatin, epirubicin, 5 fluorouracil) in advanced extrahepatic biliary tract and pancreatic cancer]. 61
19441672 2008
38
Do sporadic Peutz-Jeghers polyps exist? Experience of a large teaching hospital. 61
17667545 2007
39
Adjuvant therapy in pancreatic cancer: a critical appraisal. 61
17983252 2007
40
Analysis of hTERT mRNA expression in biliary tract and pancreatic cancer. 61
17384912 2007
41
Pancreatic cancer: a review of recent advances. 61
17040199 2006
42
Folate intake, MTHFR polymorphisms, and risk of esophageal, gastric, and pancreatic cancer: a meta-analysis. 61
17030196 2006
43
Adjuvant and neoadjuvant approaches to treat surgically resectable pancreatic cancer. 61
16904055 2006
44
Adjuvant treatment for resectable pancreatic cancer. 61
16002844 2005
45
Feasibility study of adoptive immunotherapy for metastatic lung tumors using peptide-pulsed dendritic cell-activated killer (PDAK) cells. 61
16080467 2005
46
Intravenous vitamin C as a chemotherapy agent: a report on clinical cases. 61
15377059 2004
47
A randomized trial of chemoradiotherapy and chemotherapy after resection of pancreatic cancer. 61
15028824 2004
48
Detection of type IV collagenase activity in malignant ascites. 61
14606104 2003
49
A phase I study of weekly gemcitabine and docetaxel in patients with advanced cancer: a Hoosier Oncology Group Study. 61
12138236 2002
50
Influence of resection margins on survival for patients with pancreatic cancer treated by adjuvant chemoradiation and/or chemotherapy in the ESPAC-1 randomized controlled trial. 61
11729382 2001

Variations for Pancreatic Cancer 1

ClinVar genetic disease variations for Pancreatic Cancer 1:

6 (show top 50) (show all 110)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PALLD NM_001166108.2(PALLD):c.1965-12616C>T SNV risk factor 2572 rs121908291 4:169799457-169799457 4:168878306-168878306
2 PALLD NM_001166108.2(PALLD):c.107A>G (p.Gln36Arg) SNV Uncertain significance 902927 4:169432762-169432762 4:168511611-168511611
3 PALLD NM_001166108.2(PALLD):c.222C>T (p.Ser74=) SNV Uncertain significance 902929 4:169432877-169432877 4:168511726-168511726
4 CBR4 NM_001166108.2(PALLD):c.*1757T>G SNV Uncertain significance 348061 rs886059214 4:169849088-169849088 4:168927937-168927937
5 CBR4 NM_001166108.2(PALLD):c.*1792T>A SNV Uncertain significance 348064 rs186567215 4:169849123-169849123 4:168927972-168927972
6 PALLD NM_001166108.2(PALLD):c.-172C>A SNV Uncertain significance 348019 rs777479051 4:169418256-169418256 4:168497105-168497105
7 PALLD NM_001166108.2(PALLD):c.428G>A (p.Arg143His) SNV Uncertain significance 348030 rs149345491 4:169433083-169433083 4:168511932-168511932
8 PALLD NM_001166108.2(PALLD):c.1433G>A (p.Gly478Glu) SNV Uncertain significance 348039 rs201816881 4:169611851-169611851 4:168690700-168690700
9 CBR4 NM_001166108.2(PALLD):c.*908A>G SNV Uncertain significance 348053 rs886059212 4:169848239-169848239 4:168927088-168927088
10 CBR4 NM_001166108.2(PALLD):c.*2070G>C SNV Uncertain significance 348070 rs886059217 4:169849401-169849401 4:168928250-168928250
11 CBR4 NM_001166108.2(PALLD):c.*2168C>A SNV Uncertain significance 348076 rs886059221 4:169849499-169849499 4:168928348-168928348
12 CBR4 NM_001166108.2(PALLD):c.*1808C>T SNV Uncertain significance 348065 rs539762995 4:169849139-169849139 4:168927988-168927988
13 CBR4 NM_001166108.2(PALLD):c.*2022A>G SNV Uncertain significance 348068 rs886059216 4:169849353-169849353 4:168928202-168928202
14 CBR4 NM_001166108.2(PALLD):c.*1131T>G SNV Uncertain significance 348057 rs773353973 4:169848462-169848462 4:168927311-168927311
15 CBR4 NM_001166108.2(PALLD):c.*2184G>A SNV Uncertain significance 348077 rs769635594 4:169849515-169849515 4:168928364-168928364
16 PALLD NM_001166108.2(PALLD):c.1926C>G (p.Pro642=) SNV Uncertain significance 348042 rs886059210 4:169633036-169633036 4:168711885-168711885
17 CBR4 NM_001166108.2(PALLD):c.*1787T>C SNV Uncertain significance 348063 rs886059215 4:169849118-169849118 4:168927967-168927967
18 PALLD NM_001166108.2(PALLD):c.836G>C (p.Ser279Thr) SNV Uncertain significance 348034 rs886059209 4:169433491-169433491 4:168512340-168512340
19 PALLD NM_001166108.2(PALLD):c.1219A>T (p.Thr407Ser) SNV Uncertain significance 348035 rs775730191 4:169604213-169604213 4:168683062-168683062
20 PALLD NM_001166108.2(PALLD):c.-178G>A SNV Uncertain significance 348018 rs886059207 4:169418250-169418250 4:168497099-168497099
21 PALLD NM_001166108.2(PALLD):c.-143A>G SNV Uncertain significance 348021 rs571957605 4:169418285-169418285 4:168497134-168497134
22 PALLD NM_001166108.2(PALLD):c.-83+9G>A SNV Uncertain significance 348023 rs150719521 4:169418354-169418354 4:168497203-168497203
23 CBR4 NM_001166108.2(PALLD):c.*2166A>G SNV Uncertain significance 348075 rs886059220 4:169849497-169849497 4:168928346-168928346
24 PALLD NM_001166108.2(PALLD):c.1571G>T (p.Arg524Ile) SNV Uncertain significance 900423 4:169630248-169630248 4:168709097-168709097
25 PALLD NM_001166108.2(PALLD):c.1616C>T (p.Thr539Ile) SNV Uncertain significance 900424 4:169630293-169630293 4:168709142-168709142
26 PALLD NM_001166108.2(PALLD):c.1957C>A (p.Pro653Thr) SNV Uncertain significance 900486 4:169633067-169633067 4:168711916-168711916
27 CBR4 NM_001166108.2(PALLD):c.*1655A>T SNV Uncertain significance 900539 4:169848986-169848986 4:168927835-168927835
28 CBR4 NM_001166108.2(PALLD):c.*1713T>C SNV Uncertain significance 900540 4:169849044-169849044 4:168927893-168927893
29 PALLD NM_001166108.2(PALLD):c.574A>G (p.Ser192Gly) SNV Uncertain significance 901518 4:169433229-169433229 4:168512078-168512078
30 PALLD NM_001166108.2(PALLD):c.639C>A (p.Ala213=) SNV Uncertain significance 901520 4:169433294-169433294 4:168512143-168512143
31 PALLD NM_001166108.2(PALLD):c.721C>T (p.His241Tyr) SNV Uncertain significance 901521 4:169433376-169433376 4:168512225-168512225
32 PALLD NM_001166108.2(PALLD):c.-135A>G SNV Uncertain significance 902039 4:169418293-169418293 4:168497142-168497142
33 PALLD NM_001166108.2(PALLD):c.-115C>G SNV Uncertain significance 902040 4:169418313-169418313 4:168497162-168497162
34 PALLD NM_001166108.2(PALLD):c.860G>A (p.Arg287Gln) SNV Uncertain significance 902099 4:169433515-169433515 4:168512364-168512364
35 PALLD NM_001166108.2(PALLD):c.908+3A>G SNV Uncertain significance 902100 4:169433566-169433566 4:168512415-168512415
36 PALLD NM_001166108.2(PALLD):c.946G>T (p.Asp316Tyr) SNV Uncertain significance 902101 4:169589378-169589378 4:168668227-168668227
37 CBR4 NM_001166108.2(PALLD):c.2686C>T (p.Arg896Trp) SNV Uncertain significance 902155 4:169835141-169835141 4:168913990-168913990
38 CBR4 NM_001166108.2(PALLD):c.*2027T>C SNV Uncertain significance 902207 4:169849358-169849358 4:168928207-168928207
39 CBR4 NM_001166108.2(PALLD):c.*2141A>G SNV Uncertain significance 902208 4:169849472-169849472 4:168928321-168928321
40 PALLD NM_001166108.2(PALLD):c.1129A>G (p.Lys377Glu) SNV Uncertain significance 902977 4:169602524-169602524 4:168681373-168681373
41 PALLD NM_001166108.2(PALLD):c.1260+8T>C SNV Uncertain significance 902978 4:169604262-169604262 4:168683111-168683111
42 CBR4 NM_001166108.2(PALLD):c.*386T>C SNV Uncertain significance 903035 4:169847717-169847717 4:168926566-168926566
43 CBR4 NM_001166108.2(PALLD):c.*400T>C SNV Uncertain significance 903036 4:169847731-169847731 4:168926580-168926580
44 CBR4 NM_001166108.2(PALLD):c.*439T>C SNV Uncertain significance 903037 4:169847770-169847770 4:168926619-168926619
45 CBR4 NM_001166108.2(PALLD):c.*461G>A SNV Uncertain significance 903038 4:169847792-169847792 4:168926641-168926641
46 CBR4 NM_001166108.2(PALLD):c.*2171T>C SNV Uncertain significance 903089 4:169849502-169849502 4:168928351-168928351
47 PALLD NM_001166108.2(PALLD):c.608G>T (p.Gly203Val) SNV Likely benign 901519 4:169433263-169433263 4:168512112-168512112
48 PALLD NM_001166108.2(PALLD):c.366T>G (p.Pro122=) SNV Likely benign 348029 rs377747204 4:169433021-169433021 4:168511870-168511870
49 PALLD NM_001166108.2(PALLD):c.1842T>A (p.His614Gln) SNV Likely benign 348041 rs150443035 4:169632952-169632952 4:168711801-168711801
50 PALLD NM_001166108.2(PALLD):c.539C>T (p.Thr180Ile) SNV Likely benign 128111 rs146387060 4:169433194-169433194 4:168512043-168512043

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

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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