Belgian Genetic Tests database- Diseases
- Hereditary diffuse gastric cancer
Hereditary diffuse gastric cancer
| Name: |
Hereditary diffuse gastric cancer
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| Description: |
Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.
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| ORPHAcode: |
26106
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| Synonyms: |
FDGC
Familial diffuse cancer of stomach
Familial diffuse gastric cancer
HDGC
Hereditary diffuse cancer of stomach
Hereditary diffuse gastric adenocarcinoma
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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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 -
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 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