IllnessGastric cancer, hereditary diffuse; in part multifactorial; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for mutation detection in multifactorial and hereditary diffuse Stomach cancers comprising 2 guideline-curated core genes, furthermore 11 guideline-mentioned genes and altogether 22 curated genes according to the clinical suspicion

MP0030

Number of genes

18 Accredited laboratory test

Examined sequence length

12,3 kb (Core-/Core-canditate-Genes)
57,3 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CDH1	2649	192090	NM_004360.5	AD
CTNNA1	2721	116805	NM_001903.5	Sus
IL1B	810	147720	NM_000576.3	Sus
IL1RN	543	147679	NM_173841.3	Sus
KIT	2931	164920	NM_000222.3	AD, Sus
KRAS	567	190070	NM_004985.5	AD, Sus
SDHA	1995	600857	NM_004168.4	AD
APC	8532	611731	NM_000038.6	AD, Sus
ATM	9171	607585	NM_000051.4	AR
BRCA2	10257	600185	NM_000059.4	n.k.
MLH1	2271	120436	NM_000249.4	AD, AR
MSH2	2805	609309	NM_000251.3	AD, AR
MSH6	4083	600678	NM_000179.3	AD
MUTYH	1650	604933	NM_001128425.2	AR, Sus
PMS2	2589	600259	NM_000535.7	AR, Sus
PTEN	1212	601728	NM_000314.8	Sus
STK11	1302	602216	NM_000455.5	AD, Sus
TP53	1182	191170	NM_000546.6	AD, Sus

Informations about the disease

Clinical Comment

Epithelial tumor of diffuse signet ring cell (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

Synonyms

Alias: Familial diffuse cancer of stomach
Alias: Gastric cancer, hereditary diffuse
Alias: Hereditary diffuse gastric adenocarcinoma
Allelic: Adenomas, multiple colorectal (MUTYH)
Allelic: Adenomatous polyposis coli (APC)
Allelic: Adrenocortical carcinoma, pediatric (TP53)
Allelic: Arteriovenous malformation of the brain, somatic (KRAS)
Allelic: Autism syndrome (PTEN)
Allelic: Basal cell carcinoma 7 (TP53)
Allelic: Bladder cancer, somatic (KRAS)
Allelic: Blepharocheilodontic syndrome 1 (CDH1)
Allelic: Bone marrow failure syndrome 5 (TP53)
Allelic: Brain tumor-polyposis syndrome 2 (APC)
Allelic: Breast cancer, lobular (CDH1)
Allelic: Breast cancer, male, susceptibility to (BRCA2)
Allelic: Breast cancer, somatic (KRAS, TP53)
Allelic: Breast cancer, somatic (TP53)
Allelic: Breast cancer, susceptibility to (ATM, PALB2)
Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
Allelic: Choroid plexus papilloma (TP53)
Allelic: Colorectal cancer (TP53)
Allelic: Colorectal cancer, somatic (APC)
Allelic: Cowden syndrome 1 (PTEN)
Allelic: Desmoid disease, hereditary (APC)
Allelic: Diabetes mellitus, insulin-resistant, with acanthosis nigricans (INSR)
Allelic: Endometrial carcinoma, somatic (CDH1)
Allelic: Exudative vitreoretinopathy [MONDO:0019516] (CTNNA1)
Allelic: Fanconi anemia, complementation group D1 (BRCA2)
Allelic: Fanconi anemia, complementation group N (PALB2)
Allelic: Gardner syndrome (APC)
Allelic: Glioblastoma 3 (BRCA2)
Allelic: Glioma susceptibility 1 (TP53)
Allelic: Hepatocellular carcinoma, somatic (TP53)
Allelic: Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
Allelic: Interleukin 1 receptor antagonist deficiency (IL1RN)
Allelic: Leprechaunism (INSR)
Allelic: Leukemia, acute myeloid, somatic (KRAS)
Allelic: Lhermitte-Duclos syndrome (PTEN)
Allelic: Lung cancer, somatic (KRAS)
Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
Allelic: Lymphoma, mantle cell, somatic (ATM)
Allelic: Macrocephaly
Allelic: Macular dystrophy, patterned, 2 (CTNNA1)
Allelic: Mastocytosis, cutaneous (KIT)
Allelic: Medulloblastoma (BRCA2)
Allelic: Microvascular complications of diabetes 4 (IL1RN)
Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
Allelic: Muir-Torre syndrome (MLH1)
Allelic: Myhre's growth mental deficiency syndrome (SMAD4)
Allelic: Nasopharyngeal carcinoma, somatic (TP53)
Allelic: Neurodegeneration with ataxia and late-onset optic atrophy (SDHA)
Allelic: Noonan syndrome 3 (KRAS)
Allelic: Oculoectodermal syndrome, somatic (KRAS)
Allelic: Osteosarcoma (TP53)
Allelic: Ovarian cancer, somatic (CDH1)
Allelic: Pancreatic cancer 2 (BRCA2)
Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
Allelic: Pancreatic carcinoma, somatic (KRAS, TP53)
Allelic: Paragangliomas 5 (SDHA)
Allelic: Piebaldism (KIT)
Allelic: Prostate cancer (BRCA2)
Allelic: Prostate cancer, susceptibility to (CDH1)
Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS)
Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
Allelic: Wilms tumor (BRCA2)
Ataxia-telangiectasia (ATM)
Barrett esophagus/esophageal adenocarcinoma (MSR1)
Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
Gastric cancer risk after H. pylori infection (IL1B, IL1RN)
Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
Gastric cancer, somatic (KRAS)
Gastric cancer, somatic (MUTYH)
Gastrointestinal stromal tumor, familial (KIT)
Hereditary Diffuse Gastric Cancer predisposing (CTNNA1)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
Li-Fraumeni syndrome (TP53)
Mismatch repair cancer syndrome 1, 2, 3, 4 (MLH1, MSH2, MSH6, PMS2)
Pancreatitis, hereditary (PRSS1)
Peutz-Jeghers syndrome (STK11)
Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
Polyposis, juvenile intestinal (BMPR1A)
Polyposis, juvenile intestinal (SMAD4)
Rabson-Mendenhall s.: pineal hyperplasia, Insulin-resist. diab. mell., somatic abnormal. (INSR)

Heredity, heredity patterns etc.

AD
AR
Sus
n.k.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined