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Familial atypical multiple mole melanoma syndrome

Disease Export to PDF
Name:
Familial atypical multiple mole melanoma syndrome
Description:
Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer (see this term) and other malignancies.
ORPHAcode:
404560
Synonyms:
B-K mole syndrome
FAMM-PC syndrome
FAMMM syndrome
Familial atypical mole syndrome
Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
Familial dysplastic nevus syndrome
Melanoma-pancreatic cancer syndrome
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
Analyte(s):
CDKN2A
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Hereditary Melanoma Panel (7 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CDKN2A 100.00 0
    CDK4 100.00 0
    POT1 100.00 0
    TERT 100.00 0
    TERF2IP 100.00 0
    BAP1 100.00 0
    MITF 100.00 0
  • Hereditary predisposition to cancer (47 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1 NM_000038.6
    ATM 100.00 1 NM_000051.3
    BAP1 100.00 1 NM_004656.4
    BARD1 100.00 1 NM_000465.4
    BMPR1A 100.00 1 NM_004329.3
    BRCA1 100.00 1 NM_007294.4
    BRCA2 100.00 1 NM_000059.3
    BRIP1 100.00 1 NM_032043.3
    CDH1 100.00 1 NM_004360.5
    CDKN1B 100.00 1 NM_004064.4
    CDKN2A 100.00 1 NM_001195132.1
    CHEK2 100.00 1 NM_007194.4
    EPCAM 100.00 1 NM_002354.3
    GATA2 100.00 1 NM_032638.5
    GREM1 100.00 1 NM_013372.7
    MEN1 100.00 1 NM_001370259.2
    MLH1 100.00 1 NM_000249.4
    MSH2 100.00 1 NM_000251.3
    MSH3 100.00 1 NM_002439.5
    MSH6 100.00 1 NM_000179.3
    MUTYH 100.00 1 NM_001128425.2
    NBN 100.00 1 NM_002485.5
    NTHL1 100.00 1 NM_002528.7
    PALB2 100.00 1 NM_024675.4
    PIK3CA 100.00 1 NM_006218.4
    PMS2 100.00 1 NM_000535.7
    POLD1 100.00 1 NM_002691.4
    POLE 100.00 1 NM_006231.4
    PTEN 100.00 1 NM_000314.8
    RAD50 100.00 1 NM_005732.4
    RAD51C 100.00 1 NM_058216.3
    RAD51D 100.00 1 NM_002878.3
    RPS20 100.00 1 NM_001146227.2
    SCG5 100.00 1 NM_001144757.2
    SMAD4 100.00 1 NM_005359.6
    STK11 100.00 1 NM_000455.5
    TP53 100.00 1 NM_000546.5
    WWP1 100.00 1 NM_007013.4
    AXIN2 100.00 1 NM_004655.4
    CDK4 100.00 1 NM_000075.4
    DICER1 100.00 1 NM_030621.4
    HOXB13 100.00 1 NM_006361.6
    NF1 100.00 1 NM_001042492.3
    POT1 100.00 1 NM_015450.3
    PTCH1 100.00 1 NM_000264.5
    RB1 100.00 1 NM_000321.2
    RET 100.00 1 NM_020975.6
  • Melanoma and Familial Atypical Multiple Mole Melanoma Syndrome (8 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CDKN2A 100.00 1
    CDK4 100.00 1
    BAP1 100.00 1
    POT1 100.00 1
    ACD 100.00 1
    TERF2IP 100.00 1
    TERT 0.00 0 only promoter
    MITF 100.00 1