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Peutz-Jeghers syndrome

Disease Export to PDF
Name:
Peutz-Jeghers syndrome
Description:
A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.
ORPHAcode:
2869
Synonyms:
Hamartomatous intestinal polyposis
PJS
XREF(s):
Orphanet
ICD-10
OMIM
MeSH
MedDRA
Analyte(s):
STK11
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cancer (Breast, ovary, colon,…) (26 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABRAXAS1
    ATM
    BARD1
    BRCA1
    BRCA2
    BLM
    BRIP1
    CDH1
    CHEK2
    EPCAM
    MEN1
    MLH1
    MRE11
    MSH2
    MSH6
    MUTYH
    NBN
    PALB2
    PMS2
    PTEN
    RAD50
    RAD51C
    RAD51D
    STK11
    TP53
    XRCC2
  • Colorectal cancer/polyposis (18 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    PMS2 100.00 1
    EPCAM 100.00 1
    POLD1 100.00 1
    POLE 100.00 1
    CHEK2 100.00 1
    TP53 100.00 1
    APC 100.00 1
    STK11 100.00 1
    BMPR1A 100.00 1
    SMAD4 100.00 1
    PTEN 100.00 1
    RNF43 100.00 1
    NTHL1 100.00 1
    MSH3 100.00 1
    MUTYH 100.00 1
  • Hereditary Cancer Solution (35 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1 ISO15189
    ATM 100.00 1 ISO15189
    BAP1 100.00 1 ISO15189
    BARD1 100.00 1 ISO15189
    BMPR1A 100.00 1 ISO15189
    BRCA1 100.00 1 ISO15189
    BRCA2 100.00 1 ISO15189
    BRIP1 100.00 1 ISO15189
    CDH1 100.00 1 ISO15189
    CDKN2A 100.00 1 ISO15189
    CHEK2 100.00 1 ISO15189
    EPCAM 100.00 1 ISO15189
    GREM1 100.00 1 ISO15189
    MLH1 100.00 1 ISO15189
    MRE11 100.00 1 ISO15189
    MSH2 100.00 1 ISO15189
    MSH3 100.00 1 ISO15189
    MSH6 100.00 1 ISO15189
    MUTYH 100.00 1 ISO15189
    NBN 100.00 1 ISO15189
    NTHL1 100.00 1 ISO15189
    PALB2 100.00 1 ISO15189
    PIK3CA 100.00 1 ISO15189
    PMS2 100.00 1 ISO15189
    POLD1 100.00 1 ISO15189
    POLE 100.00 1 ISO15189
    PTEN 100.00 1 ISO15189
    RAD50 100.00 1 ISO15189
    RAD51C 100.00 1 ISO15189
    RAD51D 100.00 1 ISO15189
    SCG5 100.00 1 ISO15189
    SMAD4 100.00 1 ISO15189
    STK11 100.00 1 ISO15189
    TP53 100.00 1 ISO15189
    XRCC2 100.00 1 ISO15189
  • Hereditary Polyposis Panel (11 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1 CNV assessed by MLPA
    MUTYH 100.00 1 CNV assessed by MLPA (Probes for Exons 1, 2, 11, 16 in the SALSA MLPA P043 APC kit)
    BMPR1A 100.00 0
    NTHL1 100.00 0
    SMAD4 100.00 0
    MSH3 100.00 0
    POLE 100.00 0
    POLD1 100.00 0
    PTEN 100.00 1 CNV assessed by MLPA (on demand)
    STK11 100.00 0
    GREM1 100.00 1 CNV assessed by MLPA (Probes for the upstream region in the SALSA MLPA P043 APC kit)
  • Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1
    BMPR1A 100.00 1
    GREM1 100.00 1 CNV for recurrent 40kb duplication
    MLH1 100.00 1
    MSH2 100.00 1
    MSH3 100.00 0
    MSH6 100.00 1
    MUTYH 100.00 1
    NTHL1 100.00 0
    PMS2 100.00 1
    POLD1 100.00 0
    POLE 100.00 1
    PTEN 100.00 1
    SMAD4 100.00 1
    STK11 100.00 1
    RNF43 100.00 0
    AXIN2 100.00 0
    EPCAM 100.00 1 CNV for EPCAM exon 7-9 and region between EPCAM and MSH2
  • 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