Hereditary Diffuse Gastric Cancer

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Hereditary Diffuse Gastric Cancer

KRAS
CDH1
CTNNA1
IL1RN
IL1B
MAP3K6

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Diffuse Gastric Cancer

Neoplasm
Cleft palate
Carcinoma
Cleft lip
Cleft upper lip
Oral cleft
Breast carcinoma
Stomach cancer
Chronic atrophic gastritis
Helicobacter pylori infection

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available HEREDITARY DIFFUSE GASTRIC CANCER have a estimated incidence of 1.5 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Hereditary Diffuse Gastric Cancer Is also known as hereditary diffuse cancer of stomach, hereditary diffuse gastric adenocarcinoma, familial diffuse cancer of stomach, familial diffuse gastric cancer, gastric cancer, familial diffuse, fdgc, hdgc, gastric cancer, hereditary diffuse.

Researches and researchers

Doctors, researchs, and experts related to Hereditary Diffuse Gastric Cancer extracted from public data.

Hereditary Diffuse Gastric Cancer Experts map

Current Researchs and researchers

SAN GIOVANNI ROTONDO — Dr Massimo CARELLA
Responsible for diagnostic tests - Investigator of research project
- Institution/s:
  — IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
- Research area/topic::
  Expression profiling studies in tumors by using DNA microarrays

PORTO — Pr Carla Isabel GONCALVES DE OLIVEIRA
Investigator of research project
- Institution/s:
  — Instituto de Patologia e Imunologia Molecular da Universidade do Porto
  — Instituto de Patologia e Imunologia Molecular da Universidade do Porto
- Research area/topic::
  Tumour spectrum in Hereditary Diffuse Gastric Cancer

PORTO — Pr Raquel SERUCA
Investigator of research project - Director of laboratory
- Institution/s:
  — Instituto de Patologia e Imunologia Molecular da Universidade do Porto
- Research area/topic::
  Tumour spectrum in Hereditary Diffuse Gastric Cancer

Hereditary Diffuse Gastric Cancer Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRAS Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). KRAS Specificity 100 % Genes 17 %
KRAS Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories (United States). KRAS Specificity 100 % Genes 17 %
KRAS Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). KRAS Specificity 100 % Genes 17 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen. By Baylor Miraca Genetics Laboratories (United States). RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...) View the complete list with 9 more genes Panel complete gene list RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NRAS, PTPN11, RAD21, RAF1 Specificity 4 % Genes 17 %
KRAS/RAF1/SOS1 DNA Sequencing Evaluation. By Athena Diagnostics Inc (United States). SOS1, KRAS, RAF1 Specificity 34 % Genes 17 %
KRAS DNA Sequencing Test. By Athena Diagnostics Inc (United States). KRAS Specificity 100 % Genes 17 %
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...) View the complete list with 66 more genes Panel complete gene list RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9, CDAN1, KAT6B, ALG1, CHRNA1, CHRND, CHRNG, CANT1, KIAA0586, CLCNKA, CLCNKB, SUMF1, PEX26, FAT4, DHCR7, PIEZO1, WDR35, CCBE1, GNPTAB, FGFR3, FOXC2, G6PD, GALNS, GATA1, GBA, GBE1, GLA, GLB1, GUSB, HADHA, HADHB, HRAS, IDUA, FOXP3, KLF1, KIF23, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, KMT2D, ASAH1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PIGA, PKLR, PMM2, CTSA, PTH1R, PTPN11, PEX19, PEX5, RAF1, RASA1 Specificity 2 % Genes 17 %
NGS RASopathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...) View the complete list with 3 more genes Panel complete gene list RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2 Specificity 5 % Genes 17 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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