MCID: MLN047
MIFTS: 25

Melanoma-Pancreatic Cancer Syndrome

Categories: Genetic diseases, Skin diseases, Endocrine diseases, Cancer diseases

Aliases & Classifications for Melanoma-Pancreatic Cancer Syndrome

MalaCards integrated aliases for Melanoma-Pancreatic Cancer Syndrome:

Name: Melanoma-Pancreatic Cancer Syndrome 57 75 29 6 73
Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome 57 75
Pancreatic Cancer/melanoma Syndrome 57 13
Fammmpc 57 75
Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome; Fammmpc 57
Syndrome, Melanoma-Pancreatic Cancer 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
melanoma-pancreatic cancer syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Melanoma-Pancreatic Cancer Syndrome

OMIM : 57 Melanoma-pancreatic cancer syndrome is an inherited cancer predisposition syndrome in which mutation carriers have an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer (summary by Harinck et al., 2012). For background and phenotypic information on malignant melanoma and pancreatic cancer, see 155600 and 260350, respectively. (606719)

MalaCards based summary : Melanoma-Pancreatic Cancer Syndrome, also known as familial atypical multiple mole melanoma-pancreatic carcinoma syndrome, is related to melanoma and pancreatic cancer. An important gene associated with Melanoma-Pancreatic Cancer Syndrome is CDKN2A (Cyclin Dependent Kinase Inhibitor 2A). Related phenotypes are squamous cell carcinoma and melanoma

UniProtKB/Swiss-Prot : 75 Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome: An inherited cancer predisposition syndrome characterized by an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer.

Related Diseases for Melanoma-Pancreatic Cancer Syndrome

Graphical network of the top 20 diseases related to Melanoma-Pancreatic Cancer Syndrome:



Diseases related to Melanoma-Pancreatic Cancer Syndrome

Symptoms & Phenotypes for Melanoma-Pancreatic Cancer Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
pancreatic adenocarcinoma
pancreatic squamous cell carcinoma
melanoma
oropharyngeal squamous cell carcinoma
sarcoma


Clinical features from OMIM:

606719

Human phenotypes related to Melanoma-Pancreatic Cancer Syndrome:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 squamous cell carcinoma 32 HP:0002860
2 melanoma 32 HP:0002861
3 pancreatic adenocarcinoma 32 HP:0006725
4 pancreatic squamous cell carcinoma 32 HP:0012142
5 oropharyngeal squamous cell carcinoma 32 HP:0012182
6 sarcoma 32 HP:0100242

Drugs & Therapeutics for Melanoma-Pancreatic Cancer Syndrome

Search Clinical Trials , NIH Clinical Center for Melanoma-Pancreatic Cancer Syndrome

Genetic Tests for Melanoma-Pancreatic Cancer Syndrome

Genetic tests related to Melanoma-Pancreatic Cancer Syndrome:

# Genetic test Affiliating Genes
1 Melanoma-Pancreatic Cancer Syndrome 29 CDKN2A

Anatomical Context for Melanoma-Pancreatic Cancer Syndrome

Publications for Melanoma-Pancreatic Cancer Syndrome

Articles related to Melanoma-Pancreatic Cancer Syndrome:

# Title Authors Year
1
Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome. ( 26381259 )
2015
2
Predicting the risk of pancreatic cancer: on CDKN2A mutations in the melanoma-pancreatic cancer syndrome in Italy. ( 18024887 )
2007

Variations for Melanoma-Pancreatic Cancer Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 CDKN2A p.Gly101Trp VAR_001464 rs104894094

ClinVar genetic disease variations for Melanoma-Pancreatic Cancer Syndrome:

6
(show top 50) (show all 57)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKN2A NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh37 Chromosome 9, 21971114: 21971132
2 CDKN2A NM_000077.4(CDKN2A): c.226_244del19 (p.Ala76Cysfs) deletion Pathogenic,risk factor rs587776716 GRCh38 Chromosome 9, 21971115: 21971133
3 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh37 Chromosome 9, 21971057: 21971057
4 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant risk factor rs104894094 GRCh38 Chromosome 9, 21971058: 21971058
5 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh37 Chromosome 9, 21974756: 21974756
6 CDKN2A NM_000077.4(CDKN2A): c.71G> C (p.Arg24Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894097 GRCh38 Chromosome 9, 21974757: 21974757
7 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh37 Chromosome 9, 21970981: 21970981
8 CDKN2A NM_000077.4(CDKN2A): c.377T> A (p.Val126Asp) single nucleotide variant Pathogenic rs104894098 GRCh38 Chromosome 9, 21970982: 21970982
9 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Likely pathogenic rs104894099 GRCh37 Chromosome 9, 21971182: 21971182
10 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Likely pathogenic rs104894099 GRCh38 Chromosome 9, 21971183: 21971183
11 CDKN2A CDKN2A, 5-BP DUP, NT19 duplication Pathogenic
12 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh38 Chromosome 9, 21971106: 21971119
13 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh37 Chromosome 9, 21971105: 21971118
14 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh38 Chromosome 9, 21974861: 21974861
15 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh37 Chromosome 9, 21974860: 21974860
16 CDKN2A NM_000077.4(CDKN2A): c.384G> A (p.Arg128=) single nucleotide variant Likely benign rs199901898 GRCh37 Chromosome 9, 21970974: 21970974
17 CDKN2A NM_000077.4(CDKN2A): c.384G> A (p.Arg128=) single nucleotide variant Likely benign rs199901898 GRCh38 Chromosome 9, 21970975: 21970975
18 CDKN2A NM_000077.4(CDKN2A): c.457G> T (p.Asp153Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs45476696 GRCh38 Chromosome 9, 21970902: 21970902
19 CDKN2A NM_000077.4(CDKN2A): c.457G> T (p.Asp153Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs45476696 GRCh37 Chromosome 9, 21970901: 21970901
20 CDKN2A NM_000077.4(CDKN2A): c.9_32del24 (p.Ala4_Pro11del) deletion Uncertain significance rs751570838 GRCh37 Chromosome 9, 21974795: 21974818
21 CDKN2A NM_000077.4(CDKN2A): c.9_32del24 (p.Ala4_Pro11del) deletion Uncertain significance rs751570838 GRCh38 Chromosome 9, 21974796: 21974819
22 CDKN2A NM_000077.4(CDKN2A): c.150+1104C> A single nucleotide variant Uncertain significance rs756102261 GRCh38 Chromosome 9, 21973574: 21973574
23 CDKN2A NM_000077.4(CDKN2A): c.150+1104C> A single nucleotide variant Uncertain significance rs756102261 GRCh37 Chromosome 9, 21973573: 21973573
24 CDKN2A NM_000077.4(CDKN2A): c.-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs764244718 GRCh38 Chromosome 9, 21974841: 21974841
25 CDKN2A NM_000077.4(CDKN2A): c.-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs764244718 GRCh37 Chromosome 9, 21974840: 21974840
26 CDKN2A NM_000077.4(CDKN2A): c.-34G> C single nucleotide variant Conflicting interpretations of pathogenicity rs1800586 GRCh37 Chromosome 9, 21974860: 21974860
27 CDKN2A NM_000077.4(CDKN2A): c.-34G> C single nucleotide variant Conflicting interpretations of pathogenicity rs1800586 GRCh38 Chromosome 9, 21974861: 21974861
28 CDKN2A NM_000077.4(CDKN2A): c.-19492T> A single nucleotide variant Uncertain significance rs776987532 GRCh38 Chromosome 9, 21994319: 21994319
29 CDKN2A NM_000077.4(CDKN2A): c.-19492T> A single nucleotide variant Uncertain significance rs776987532 GRCh37 Chromosome 9, 21994318: 21994318
30 CDKN2A NM_000077.4(CDKN2A): c.458-465G> C single nucleotide variant Likely benign rs563204204 GRCh37 Chromosome 9, 21968706: 21968706
31 CDKN2A NM_000077.4(CDKN2A): c.458-465G> C single nucleotide variant Likely benign rs563204204 GRCh38 Chromosome 9, 21968707: 21968707
32 CDKN2A NM_000077.4(CDKN2A): c.458-541A> G single nucleotide variant Likely benign rs938889880 GRCh38 Chromosome 9, 21968783: 21968783
33 CDKN2A NM_000077.4(CDKN2A): c.458-541A> G single nucleotide variant Likely benign rs938889880 GRCh37 Chromosome 9, 21968782: 21968782
34 CDKN2A NM_000077.4(CDKN2A): c.295C> G (p.Arg99Gly) single nucleotide variant Uncertain significance rs34886500 GRCh37 Chromosome 9, 21971063: 21971063
35 CDKN2A NM_000077.4(CDKN2A): c.295C> G (p.Arg99Gly) single nucleotide variant Uncertain significance rs34886500 GRCh38 Chromosome 9, 21971064: 21971064
36 CDKN2A NM_000077.4(CDKN2A): c.151-14G> A single nucleotide variant Benign/Likely benign rs767030551 GRCh38 Chromosome 9, 21971222: 21971222
37 CDKN2A NM_000077.4(CDKN2A): c.151-14G> A single nucleotide variant Benign/Likely benign rs767030551 GRCh37 Chromosome 9, 21971221: 21971221
38 CDKN2A NM_000077.4(CDKN2A): c.150+1104C> T single nucleotide variant Likely benign rs756102261 GRCh38 Chromosome 9, 21973574: 21973574
39 CDKN2A NM_000077.4(CDKN2A): c.150+1104C> T single nucleotide variant Likely benign rs756102261 GRCh37 Chromosome 9, 21973573: 21973573
40 CDKN2A NM_000077.4(CDKN2A): c.150+216A> G single nucleotide variant Likely benign rs147602781 GRCh38 Chromosome 9, 21974462: 21974462
41 CDKN2A NM_000077.4(CDKN2A): c.150+216A> G single nucleotide variant Likely benign rs147602781 GRCh37 Chromosome 9, 21974461: 21974461
42 CDKN2A NM_000077.4(CDKN2A): c.150+193G> A single nucleotide variant Likely benign rs1057517587 GRCh38 Chromosome 9, 21974485: 21974485
43 CDKN2A NM_000077.4(CDKN2A): c.150+193G> A single nucleotide variant Likely benign rs1057517587 GRCh37 Chromosome 9, 21974484: 21974484
44 CDKN2A NM_000077.4(CDKN2A): c.150+104_150+105delAG deletion Likely benign rs1057517608 GRCh38 Chromosome 9, 21974573: 21974574
45 CDKN2A NM_000077.4(CDKN2A): c.150+104_150+105delAG deletion Likely benign rs1057517608 GRCh37 Chromosome 9, 21974572: 21974573
46 CDKN2A NM_000077.4(CDKN2A): c.150+71_150+76del6 deletion Likely benign rs753508262 GRCh38 Chromosome 9, 21974602: 21974607
47 CDKN2A NM_000077.4(CDKN2A): c.150+71_150+76del6 deletion Likely benign rs753508262 GRCh37 Chromosome 9, 21974601: 21974606
48 CDKN2A NM_000077.4(CDKN2A): c.150+40C> T single nucleotide variant Likely benign rs1057517604 GRCh37 Chromosome 9, 21974637: 21974637
49 CDKN2A NM_000077.4(CDKN2A): c.150+40C> T single nucleotide variant Likely benign rs1057517604 GRCh38 Chromosome 9, 21974638: 21974638
50 CDKN2A NM_058195.3(CDKN2A): c.79A> C (p.Ile27Leu) single nucleotide variant Uncertain significance rs1057517575 GRCh37 Chromosome 9, 21994252: 21994252

Expression for Melanoma-Pancreatic Cancer Syndrome

Search GEO for disease gene expression data for Melanoma-Pancreatic Cancer Syndrome.

Pathways for Melanoma-Pancreatic Cancer Syndrome

GO Terms for Melanoma-Pancreatic Cancer Syndrome

Sources for Melanoma-Pancreatic Cancer Syndrome

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9 Cosmic
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11 DGIdb
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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