IllnessStomach cancer, predisposition

NGS +

[Sanger]

Gastric cancer is the third leading cause of malignancy death worldwide with the highest rates in East Asia, South America and Eastern Europe. Familial predisposition to the disease exists in 15% of those affected. Environmental risk factors for gastric cancer include smoking, smoked foods, salted fish/meat, pickled vegetables, Helicobacter pylori infection, adenomatous polyps, chronic atrophic gastritis etc. Hereditary syndromes predisposing to gastric cancer include hereditary diffuse gastric cancer (HDGC), Lynch syndrome, familial adenomatous polyposis, juvenile polyposis and Peutz-Jeghers syndrome. A fairly large number of other genes each contribute to gastric cancer predisposition with a very small increase in risk. HDGC is the most common genetic predisposing syndrome for gastric cancer, with germline mutations of the E-cadherin gene (CDH1) detected in 30-50% of diffuse-type gastric cancers. Families harboring these mutations have an autosomal dominant inheritance pattern with very high penetrance; most other gastric cancers appear to be multifactorial. Negative molecular genetic results by no means exclude clinical diagnosis.

Reference: https://doi.org/10.1016/S2468-1253(18)30237-1

• Alias: Hereditary diffuse gastric adenocarcinoma
• Alias: Predisposition to gastric cancer
• 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, hereditary nonpolyposis, type 1 (MSH2)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Allelic: Colorectal cancer, somatic (APC)
• Allelic: Cowden syndrome 1 (PTEN)
• Allelic: Desmoid disease, hereditary (APC)
• Allelic: Endometrial cancer, familial (MSH6)
• 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: Interleukin 1 receptor antagonist deficiency (IL1RN)
• 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: Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
• Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
• Allelic: Muir-Torre syndrome (MLH1)
• Allelic: Muir-Torre syndrome (MLH1, MSH2)
• 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)
• Li-Fraumeni syndrome (TP53)
• Mismatch repair cancer syndrome 1, 2, 3, 4 (MLH1, MSH2, MSH6, PMS2)
• Peutz-Jeghers syndrome (STK11)