PNCA3
MCID: PNC095
MIFTS: 24

Pancreatic Cancer 3 (PNCA3)

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

Aliases & Classifications for Pancreatic Cancer 3

MalaCards integrated aliases for Pancreatic Cancer 3:

Name: Pancreatic Cancer 3 57 75 29 6
Pancreatic Cancer, Susceptibility to, 3 57 13
Pnca3 57 75
Cancer, Pancreatic, Susceptibility to, Type 3 40

Classifications:



External Ids:

OMIM 57 613348
MedGen 42 C3150547
MeSH 44 D010190

Summaries for Pancreatic Cancer 3

UniProtKB/Swiss-Prot : 75 Pancreatic cancer 3: 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 3, also known as pancreatic cancer, susceptibility to, 3, is related to fanconi anemia, complementation group n and tracheoesophageal fistula. An important gene associated with Pancreatic Cancer 3 is PALB2 (Partner And Localizer Of BRCA2). Affiliated tissues include pancreas, and related phenotype is cardiovascular system.

Description from OMIM: 613348

Related Diseases for Pancreatic Cancer 3

Diseases in the Pancreatic Cancer family:

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

Diseases related to Pancreatic Cancer 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group n 9.7 DCTN5 PALB2
2 tracheoesophageal fistula 9.6 DCTN5 PALB2

Symptoms & Phenotypes for Pancreatic Cancer 3

Clinical features from OMIM:

613348

MGI Mouse Phenotypes related to Pancreatic Cancer 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.8 DCTN5 GDNF PALB2

Drugs & Therapeutics for Pancreatic Cancer 3

Search Clinical Trials , NIH Clinical Center for Pancreatic Cancer 3

Genetic Tests for Pancreatic Cancer 3

Genetic tests related to Pancreatic Cancer 3:

# Genetic test Affiliating Genes
1 Pancreatic Cancer 3 29 PALB2

Anatomical Context for Pancreatic Cancer 3

MalaCards organs/tissues related to Pancreatic Cancer 3:

41
Pancreas

Publications for Pancreatic Cancer 3

Variations for Pancreatic Cancer 3

ClinVar genetic disease variations for Pancreatic Cancer 3:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 PALB2 NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118203998 GRCh37 Chromosome 16, 23614792: 23614792
2 PALB2 NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118203998 GRCh38 Chromosome 16, 23603471: 23603471
3 PALB2 NM_024675.3(PALB2): c.1010T> C (p.Leu337Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs45494092 GRCh38 Chromosome 16, 23635536: 23635536
4 PALB2 NM_024675.3(PALB2): c.1010T> C (p.Leu337Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs45494092 GRCh37 Chromosome 16, 23646857: 23646857
5 PALB2 NM_024675.3(PALB2): c.1027C> T (p.Gln343Ter) single nucleotide variant Pathogenic rs180177097 GRCh38 Chromosome 16, 23635519: 23635519
6 PALB2 NM_024675.3(PALB2): c.1027C> T (p.Gln343Ter) single nucleotide variant Pathogenic rs180177097 GRCh37 Chromosome 16, 23646840: 23646840
7 PALB2 NM_024675.3(PALB2): c.1194G> A (p.Val398=) single nucleotide variant Benign/Likely benign rs61755173 GRCh38 Chromosome 16, 23635352: 23635352
8 PALB2 NM_024675.3(PALB2): c.1194G> A (p.Val398=) single nucleotide variant Benign/Likely benign rs61755173 GRCh37 Chromosome 16, 23646673: 23646673
9 PALB2 NM_024675.3(PALB2): c.11C> T (p.Pro4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45619737 GRCh38 Chromosome 16, 23641147: 23641147
10 PALB2 NM_024675.3(PALB2): c.11C> T (p.Pro4Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45619737 GRCh37 Chromosome 16, 23652468: 23652468
11 PALB2 NM_024675.3(PALB2): c.1222T> C (p.Tyr408His) single nucleotide variant Uncertain significance rs515726064 GRCh38 Chromosome 16, 23635324: 23635324
12 PALB2 NM_024675.3(PALB2): c.1222T> C (p.Tyr408His) single nucleotide variant Uncertain significance rs515726064 GRCh37 Chromosome 16, 23646645: 23646645
13 PALB2 NM_024675.3(PALB2): c.1314delA (p.Phe440Leufs) deletion Pathogenic rs515726065 GRCh38 Chromosome 16, 23635232: 23635232
14 PALB2 NM_024675.3(PALB2): c.1314delA (p.Phe440Leufs) deletion Pathogenic rs515726065 GRCh37 Chromosome 16, 23646553: 23646553
15 PALB2 NM_024675.3(PALB2): c.1572A> G (p.Ser524=) single nucleotide variant Benign/Likely benign rs45472400 GRCh38 Chromosome 16, 23634974: 23634974
16 PALB2 NM_024675.3(PALB2): c.1572A> G (p.Ser524=) single nucleotide variant Benign/Likely benign rs45472400 GRCh37 Chromosome 16, 23646295: 23646295
17 PALB2 NM_024675.3(PALB2): c.172_175delTTGT (p.Gln60Argfs) deletion risk factor rs180177143 GRCh38 Chromosome 16, 23637886: 23637889
18 PALB2 NM_024675.3(PALB2): c.172_175delTTGT (p.Gln60Argfs) deletion risk factor rs180177143 GRCh37 Chromosome 16, 23649207: 23649210
19 PALB2 NM_024675.3(PALB2): c.2014G> C (p.Glu672Gln) single nucleotide variant Benign/Likely benign rs45532440 GRCh38 Chromosome 16, 23630140: 23630140
20 PALB2 NM_024675.3(PALB2): c.2014G> C (p.Glu672Gln) single nucleotide variant Benign/Likely benign rs45532440 GRCh37 Chromosome 16, 23641461: 23641461
21 PALB2 PALB2: c.2515-1G> T single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs587776417 GRCh38 Chromosome 16, 23629276: 23629276
22 PALB2 PALB2: c.2515-1G> T single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs587776417 GRCh37 Chromosome 16, 23640597: 23640597
23 PALB2 NM_024675.3(PALB2): c.2515-24A> G single nucleotide variant Likely benign rs515726089 GRCh38 Chromosome 16, 23629299: 23629299
24 PALB2 NM_024675.3(PALB2): c.2515-24A> G single nucleotide variant Likely benign rs515726089 GRCh37 Chromosome 16, 23640620: 23640620
25 PALB2 NM_024675.3(PALB2): c.2590C> T (p.Pro864Ser) single nucleotide variant Benign/Likely benign rs45568339 GRCh38 Chromosome 16, 23626394: 23626394
26 PALB2 NM_024675.3(PALB2): c.2590C> T (p.Pro864Ser) single nucleotide variant Benign/Likely benign rs45568339 GRCh37 Chromosome 16, 23637715: 23637715
27 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Uncertain significance rs180177125 GRCh38 Chromosome 16, 23624070: 23624070
28 PALB2 NM_024675.3(PALB2): c.2773G> C (p.Val925Leu) single nucleotide variant Uncertain significance rs180177125 GRCh37 Chromosome 16, 23635391: 23635391
29 PALB2 NM_024675.3(PALB2): c.2794G> A (p.Val932Met) single nucleotide variant Benign/Likely benign rs45624036 GRCh38 Chromosome 16, 23624049: 23624049
30 PALB2 NM_024675.3(PALB2): c.2794G> A (p.Val932Met) single nucleotide variant Benign/Likely benign rs45624036 GRCh37 Chromosome 16, 23635370: 23635370
31 PALB2 NM_024675.3(PALB2): c.2816T> G (p.Leu939Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs45478192 GRCh38 Chromosome 16, 23624027: 23624027
32 PALB2 NM_024675.3(PALB2): c.2816T> G (p.Leu939Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs45478192 GRCh37 Chromosome 16, 23635348: 23635348
33 PALB2 NM_024675.3(PALB2): c.2993G> A (p.Gly998Glu) single nucleotide variant Benign/Likely benign rs45551636 GRCh38 Chromosome 16, 23622972: 23622972
34 PALB2 NM_024675.3(PALB2): c.2993G> A (p.Gly998Glu) single nucleotide variant Benign/Likely benign rs45551636 GRCh37 Chromosome 16, 23634293: 23634293
35 PALB2 NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs) deletion Pathogenic/Likely pathogenic,risk factor rs180177133 GRCh38 Chromosome 16, 23614089: 23614089
36 PALB2 NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs) deletion Pathogenic/Likely pathogenic,risk factor rs180177133 GRCh37 Chromosome 16, 23625410: 23625410
37 PALB2 PALB2: c.3202-?_*297del (p.Gly1068_Ser1186delins45) deletion Pathogenic GRCh38 Chromosome 16, 23603162: 23608012
38 PALB2 PALB2: c.3202-?_*297del (p.Gly1068_Ser1186delins45) deletion Pathogenic GRCh37 Chromosome 16, 23614483: 23619333
39 PALB2 NM_024675.3(PALB2): c.3256C> T (p.Arg1086Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs587776527 GRCh38 Chromosome 16, 23607958: 23607958
40 PALB2 NM_024675.3(PALB2): c.3256C> T (p.Arg1086Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs587776527 GRCh37 Chromosome 16, 23619279: 23619279
41 PALB2 NM_024675.3(PALB2): c.3300T> G (p.Thr1100=) single nucleotide variant Benign/Likely benign rs45516100 GRCh38 Chromosome 16, 23607914: 23607914
42 PALB2 NM_024675.3(PALB2): c.3300T> G (p.Thr1100=) single nucleotide variant Benign/Likely benign rs45516100 GRCh37 Chromosome 16, 23619235: 23619235
43 PALB2 NM_024675.3(PALB2): c.3497delG (p.Gly1166Valfs) deletion Pathogenic rs180177138 GRCh38 Chromosome 16, 23603523: 23603523
44 PALB2 NM_024675.3(PALB2): c.3497delG (p.Gly1166Valfs) deletion Pathogenic rs180177138 GRCh37 Chromosome 16, 23614844: 23614844
45 PALB2 NM_024675.3(PALB2): c.509_510delGA (p.Arg170Ilefs) deletion Pathogenic rs515726123 GRCh38 Chromosome 16, 23636036: 23636037
46 PALB2 NM_024675.3(PALB2): c.509_510delGA (p.Arg170Ilefs) deletion Pathogenic rs515726123 GRCh37 Chromosome 16, 23647358: 23647359
47 PALB2 NM_024675.3(PALB2): c.72delG (p.Arg26Glyfs) deletion Pathogenic rs180177142 GRCh38 Chromosome 16, 23638106: 23638106
48 PALB2 NM_024675.3(PALB2): c.72delG (p.Arg26Glyfs) deletion Pathogenic rs180177142 GRCh37 Chromosome 16, 23649427: 23649427
49 PALB2 NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs) deletion Pathogenic rs180177092 GRCh38 Chromosome 16, 23635788: 23635789
50 PALB2 NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs) deletion Pathogenic rs180177092 GRCh37 Chromosome 16, 23647109: 23647110

Expression for Pancreatic Cancer 3

Search GEO for disease gene expression data for Pancreatic Cancer 3.

Pathways for Pancreatic Cancer 3

GO Terms for Pancreatic Cancer 3

Biological processes related to Pancreatic Cancer 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 8.96 GDNF PALB2
2 embryonic organ development GO:0048568 8.62 GDNF PALB2

Sources for Pancreatic Cancer 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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