©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessEndometrium cancer [heritable, susceptibility]


Short information

Comprehensive differential diagnostic panel for Endometrium cancer (inherited, susceptibility) comprising 6 guideline-curated genes as well as another curated gene according to the clinical signs

Number of genes
7 Accredited laboratory test
Examined sequence length
15,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
FH1533AD, Sus
MLH12271AD, Sus
MSH22805AD, Sus
MSH64083AD, Sus

Informations about the disease

Clinical Comment

Endometrial cancer can run in families. These families also have a higher risk for colon cancer, i.e. HNPCC (Lynch syndrome). In many cases, HNPCC is caused by a defect in mismatch repair genes MLH1, MSH2, MLH3, MSH6, TGBR2, PMS1, PMS2. Mutation(s) in any one of these genes reduces the ability to repair DNA damage. This results in a very high risk of cancer, especially also endometrial cancer. Women with this syndrome have a up to a 70% risk of developing endometrial cancer, while the risk for women in general is ~3%. The risk of ovarian cancer is also increased.


  • Alias: Uterus-Karzinom
  • Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
  • Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
  • Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
  • Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
  • Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
  • Cowden syndrome 1 (PTEN)
  • Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
  • Endometrial cancer, familial (MSH6)
  • Endometrial carcinoma
  • Fumarase deficiency (FH)
  • Glioma susceptibility 2 (PTEN)
  • Leiomyomatosis + renal cell cancer (FH)
  • Lhermitte-Duclos syndrome (PTEN)
  • Macrocephaly/autism syndrome (PTEN)
  • Meningioma (PTEN)
  • Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
  • Muir-Torre syndrome (MLH1, MSH2)
  • Prostate cancer, somatic (PTEN)
Heredity, heredity patterns etc.
  • AD
  • Sus
  • n.k.
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined