FAMMMPC
MCID: MLN047
MIFTS: 28

Melanoma-Pancreatic Cancer Syndrome (FAMMMPC)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Skin 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). Affiliated tissues include skin, bone and heart, and related phenotypes are melanoma and sarcoma

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


Clinical features from OMIM:

606719

Human phenotypes related to Melanoma-Pancreatic Cancer Syndrome:

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

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

MalaCards organs/tissues related to Melanoma-Pancreatic Cancer Syndrome:

41
Skin, Bone, Heart

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 115)
# 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 Pathogenic/Likely pathogenic,risk factor rs104894099 GRCh37 Chromosome 9, 21971182: 21971182
10 CDKN2A NM_000077.4(CDKN2A): c.176T> G (p.Val59Gly) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs104894099 GRCh38 Chromosome 9, 21971183: 21971183
11 CDKN2A CDKN2A, 5-BP DUP, NT19 duplication Pathogenic
12 CDKN2A NM_000077.4(CDKN2A): c.150+37G> C single nucleotide variant Conflicting interpretations of pathogenicity rs45456595 GRCh37 Chromosome 9, 21974640: 21974640
13 CDKN2A NM_000077.4(CDKN2A): c.150+37G> C single nucleotide variant Conflicting interpretations of pathogenicity rs45456595 GRCh38 Chromosome 9, 21974641: 21974641
14 CDKN2A NM_000077.4(CDKN2A): c.373G> C (p.Asp125His) single nucleotide variant Uncertain significance rs146179135 GRCh37 Chromosome 9, 21970985: 21970985
15 CDKN2A NM_000077.4(CDKN2A): c.373G> C (p.Asp125His) single nucleotide variant Uncertain significance rs146179135 GRCh38 Chromosome 9, 21970986: 21970986
16 CDKN2A NM_000077.4(CDKN2A): c.379G> T (p.Ala127Ser) single nucleotide variant Benign/Likely benign rs6413464 GRCh37 Chromosome 9, 21970979: 21970979
17 CDKN2A NM_000077.4(CDKN2A): c.379G> T (p.Ala127Ser) single nucleotide variant Benign/Likely benign rs6413464 GRCh38 Chromosome 9, 21970980: 21970980
18 CDKN2A NM_000077.4(CDKN2A): c.430C> T (p.Arg144Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116150891 GRCh37 Chromosome 9, 21970928: 21970928
19 CDKN2A NM_000077.4(CDKN2A): c.430C> T (p.Arg144Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116150891 GRCh38 Chromosome 9, 21970929: 21970929
20 CDKN2A NM_000077.4(CDKN2A): c.442G> A (p.Ala148Thr) single nucleotide variant Benign rs3731249 GRCh37 Chromosome 9, 21970916: 21970916
21 CDKN2A NM_000077.4(CDKN2A): c.442G> A (p.Ala148Thr) single nucleotide variant Benign rs3731249 GRCh38 Chromosome 9, 21970917: 21970917
22 CDKN2A NM_000077.4(CDKN2A): c.-25C> T single nucleotide variant Benign/Likely benign rs144481587 GRCh37 Chromosome 9, 21974851: 21974851
23 CDKN2A NM_000077.4(CDKN2A): c.-25C> T single nucleotide variant Benign/Likely benign rs144481587 GRCh38 Chromosome 9, 21974852: 21974852
24 CDKN2A NM_000077.4(CDKN2A): c.146T> C (p.Ile49Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199907548 GRCh37 Chromosome 9, 21974681: 21974681
25 CDKN2A NM_000077.4(CDKN2A): c.146T> C (p.Ile49Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199907548 GRCh38 Chromosome 9, 21974682: 21974682
26 CDKN2A NM_000077.4(CDKN2A): c.369T> A (p.His123Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs6413463 GRCh37 Chromosome 9, 21970989: 21970989
27 CDKN2A NM_000077.4(CDKN2A): c.369T> A (p.His123Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs6413463 GRCh38 Chromosome 9, 21970990: 21970990
28 CDKN2A NM_000077.4(CDKN2A): c.174A> C (p.Arg58=) single nucleotide variant Benign/Likely benign rs201208890 GRCh37 Chromosome 9, 21971184: 21971184
29 CDKN2A NM_000077.4(CDKN2A): c.174A> C (p.Arg58=) single nucleotide variant Benign/Likely benign rs201208890 GRCh38 Chromosome 9, 21971185: 21971185
30 CDKN2A NM_000077.4(CDKN2A): c.458-491C> T single nucleotide variant Benign rs181044510 GRCh37 Chromosome 9, 21968732: 21968732
31 CDKN2A NM_000077.4(CDKN2A): c.458-491C> T single nucleotide variant Benign rs181044510 GRCh38 Chromosome 9, 21968733: 21968733
32 CDKN2A NM_000077.4(CDKN2A): c.458-492G> C single nucleotide variant Likely benign rs527814073 GRCh37 Chromosome 9, 21968733: 21968733
33 CDKN2A NM_000077.4(CDKN2A): c.458-492G> C single nucleotide variant Likely benign rs527814073 GRCh38 Chromosome 9, 21968734: 21968734
34 CDKN2A NM_000077.4(CDKN2A): c.273G> A (p.Leu91=) single nucleotide variant Conflicting interpretations of pathogenicity rs4987127 GRCh37 Chromosome 9, 21971085: 21971085
35 CDKN2A NM_000077.4(CDKN2A): c.273G> A (p.Leu91=) single nucleotide variant Conflicting interpretations of pathogenicity rs4987127 GRCh38 Chromosome 9, 21971086: 21971086
36 CDKN2A NM_000077.4(CDKN2A): c.150+20C> T single nucleotide variant Likely benign rs550846229 GRCh37 Chromosome 9, 21974657: 21974657
37 CDKN2A NM_000077.4(CDKN2A): c.150+20C> T single nucleotide variant Likely benign rs550846229 GRCh38 Chromosome 9, 21974658: 21974658
38 CDKN2A NM_000077.4(CDKN2A): c.-19436C> T single nucleotide variant Benign/Likely benign rs374360796 GRCh37 Chromosome 9, 21994262: 21994262
39 CDKN2A NM_000077.4(CDKN2A): c.-19436C> T single nucleotide variant Benign/Likely benign rs374360796 GRCh38 Chromosome 9, 21994263: 21994263
40 CDKN2A NM_000077.4(CDKN2A): c.-2G> A single nucleotide variant Benign/Likely benign rs191394143 GRCh37 Chromosome 9, 21974828: 21974828
41 CDKN2A NM_000077.4(CDKN2A): c.-2G> A single nucleotide variant Benign/Likely benign rs191394143 GRCh38 Chromosome 9, 21974829: 21974829
42 CDKN2A NM_058195.3(CDKN2A): c.194-4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs529380972 GRCh37 Chromosome 9, 21971211: 21971211
43 CDKN2A NM_058195.3(CDKN2A): c.194-4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs529380972 GRCh38 Chromosome 9, 21971212: 21971212
44 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh38 Chromosome 9, 21971106: 21971119
45 CDKN2A NM_000077.4(CDKN2A): c.240_253delACCCGTGCACGACG (p.Pro81Cysfs) deletion Pathogenic rs730881675 GRCh37 Chromosome 9, 21971105: 21971118
46 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh38 Chromosome 9, 21974861: 21974861
47 CDKN2A NM_000077.4(CDKN2A): c.-34G> T single nucleotide variant Pathogenic rs1800586 GRCh37 Chromosome 9, 21974860: 21974860
48 CDKN2A NM_058195.3(CDKN2A): c.-28C> G single nucleotide variant Likely benign rs149253558 GRCh38 Chromosome 9, 21994359: 21994359
49 CDKN2A NM_058195.3(CDKN2A): c.-28C> G single nucleotide variant Likely benign rs149253558 GRCh37 Chromosome 9, 21994358: 21994358
50 CDKN2A NM_000077.4(CDKN2A): c.384G> A (p.Arg128=) single nucleotide variant Likely benign rs199901898 GRCh37 Chromosome 9, 21970974: 21970974

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

Biological processes related to Melanoma-Pancreatic Cancer Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 8.62 CDKN2A CDKN2B-AS1

Sources for Melanoma-Pancreatic Cancer Syndrome

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
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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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