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Gastric adenocarcinoma and proximal polyposis of the stomach

Disease Export to PDF
Name:
Gastric adenocarcinoma and proximal polyposis of the stomach
Description:
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis.
ORPHAcode:
314022
Synonyms:
Familial fundic gland polyposis with gastric cancer
GAPPS
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
APC
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Gastric cancer (10 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1
    CDH1 100.00 1
    TP53 100.00 1
    BRCA1 100.00 1
    BRCA2 100.00 1
    EPCAM 100.00 1
    MLH1 100.00 1
    MSH2 100.00 1
    MSH6 100.00 1
    PMS2 100.00 1
  • 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)