Details of Disease

General Information of Disease (ID: DIS2YEKP)

Disease Name Familial atypical multiple mole melanoma syndrome
Synonyms
melanoma-pancreatic cancer syndrome; FAMMM syndrome; familial atypical multiple mole melanoma-pancreatic carcinoma syndrome; familial dysplastic nevus syndrome; FAMM-PC syndrome; B-K mole syndrome; FAMM syndrome; familial atypical mole melanoma syndrome; familial atypical mole syndrome; familial Clark nevus syndrome
Disease Hierarchy
DISTXWNT: Integumentary system disorder
DISGXLG5: Hereditary neoplastic syndrome
DIS2YEKP: Familial atypical multiple mole melanoma syndrome
Disease Identifiers
MONDO ID
MONDO_0018453
MESH ID
D000096142
UMLS CUI
C2314896
MedGen ID
389220
Orphanet ID
404560

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDKN2A TTFTWQ8 Supportive Autosomal dominant [1]
CDK4 TT0PG8F Strong SusceptibilityMutation [2]
CDKN2A TTFTWQ8 Strong Genetic Variation [3]
CHRM1 TTZ9SOR Strong Biomarker [4]
MC1R TT0MV2T Strong SusceptibilityMutation [5]
MGMT TTJ8DV7 Strong SusceptibilityMutation [6]
TERT TTQY2EJ Strong SusceptibilityMutation [7]
------------------------------------------------------------------------------------
⏷ Show the Full List of 7 DTT(s)
This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDKN2A OTN0ZWAE Supportive Autosomal dominant [1]
ACD OTC54EPO Strong SusceptibilityMutation [8]
IFNA17 OTHXRYG3 Strong Genetic Variation [9]
MITF OT6XJCZH Strong SusceptibilityMutation [8]
MYCL OT1MFQ5U Strong Genetic Variation [10]
POT1 OTNBXJCQ Strong SusceptibilityMutation [11]
TERF2IP OT3M5P3G Strong SusceptibilityMutation [8]
------------------------------------------------------------------------------------
⏷ Show the Full List of 7 DOT(s)

References

1 Familial Atypical Multiple Mole Melanoma Syndrome. In: Riegert-Johnson DL, Boardman LA, Hefferon T, Roberts M, editors. Cancer Syndromes [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2009C.
2 Genetic risk factors for melanoma.Hum Genet. 2009 Oct;126(4):499-510. doi: 10.1007/s00439-009-0715-9. Epub 2009 Jul 8.
3 Well-differentiated Pancreatic Neuroendocrine Tumor in a Patient With Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM).Am J Surg Pathol. 2019 Sep;43(9):1297-1302. doi: 10.1097/PAS.0000000000001314.
4 Ultraviolet mutagenesis in a plasmid vector replicated in lymphoid cells from patient with the melanoma-prone disorder dysplastic nevus syndrome.Cancer Res. 1989 Nov 1;49(21):5918-21.
5 Melanoma susceptibility genes and risk assessment.Methods Mol Biol. 2014;1102:381-93. doi: 10.1007/978-1-62703-727-3_20.
6 Deletion of the MGMT gene in familial melanoma.Genes Chromosomes Cancer. 2014 Aug;53(8):703-11. doi: 10.1002/gcc.22180. Epub 2014 May 6.
7 TERT promoter mutations in familial and sporadic melanoma.Science. 2013 Feb 22;339(6122):959-61. doi: 10.1126/science.1230062. Epub 2013 Jan 24.
8 Genetics of familial melanoma: 20 years after CDKN2A.Pigment Cell Melanoma Res. 2015 Mar;28(2):148-60. doi: 10.1111/pcmr.12333. Epub 2015 Jan 5.
9 Haplotype analysis limits the position of the familial melanoma locus on 9p to the D9S169-D9S156 interval.Melanoma Res. 1994 Feb;4(1):29-34. doi: 10.1097/00008390-199402000-00005.
10 Exclusion of the familial melanoma locus (MLM) from the PND/D1S47 and MYCL1 regions of chromosome arm 1p in 7 Australian pedigrees.Genomics. 1992 Jan;12(1):18-25. doi: 10.1016/0888-7543(92)90401-d.
11 Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.Nat Genet. 2014 May;46(5):482-6. doi: 10.1038/ng.2941. Epub 2014 Mar 30.