Hereditary Diffuse Gastric Cancer

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.

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.

Click here to know more about Mendelian.

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



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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
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
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
Specificity
5 %
Genes
17 %

We have 483 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3 HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME 46,XY SEX REVERSAL 1; SRXY1 FAMILIAL VISCERAL MYOPATHY MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more