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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessOvarian cancer, familial; susceptibility

Summary

Short information

Comprehensive differential diagnostic panel for Ovarian cancer, familial, susceptibility, comprising 9 guideline-curated genes and altogether 12 curated genes according to the clinical signs

ID
EP3355
Number of genes
10 Accredited laboratory test
Examined sequence length
37,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
BRCA15592AD, Mult
BRCA210257AD, Mult
BRIP13750Sus
MLH12271AD, Sus
MLH34362AD
MSH22805AD, Sus
MSH64083AD, Sus
PMS22589AR, Sus
RAD51C1131AD, AR
RAD51D987AD

Informations about the disease

Clinical Comment

Ovarian cancers originate in ovaries, fallopian tubes or peritoneum with mild signs/symptoms early on. Some mutations raise the risk for ovarian cancer development, mainly in BRCA1, BRCA2 and Lynch syndrome genes. Among different tumor types, most common is high-grade serous carcinoma (70%). Very early treatment works best.

 

Synonyms
  • Alias: Ovarial-Karzinom
  • Allelic: Breast cancer, male, susceptibility to (BRCA2, BRIP1)
  • 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, hereditary nonpolyposis, type 7 (MLH3)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
  • Allelic: Colorectal cancer, somatic (MLH3)
  • Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
  • Allelic: Endometrial cancer, familial (MSH6)
  • Allelic: Endometrial cancer, susceptibility to (MLH3)
  • Allelic: Fanconi anemia, complementation group D1 (BRCA2)
  • Allelic: Fanconi anemia, complementation group J (BRIP1)
  • Allelic: Fanconi anemia, complementation group N (PALB2)
  • Allelic: Fanconi anemia, complementation group O (RAD51C)
  • Allelic: Fanconi anemia, complementation group S (BRCA1)
  • Allelic: Muir-Torre syndrome (MLH1, MSH2)
  • Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
  • Allelic: Wilms tumor (BRCA2)
  • Adult solid tumours cancer susceptibility, Lynch syndrome [panelapp] (EPCAM)
  • Breast cancer, susceptibility to (PALB2)
  • Breast-ovarian cancer, familial, 1 (BRCA1)
  • Breast-ovarian cancer, familial, 2 (BRCA2)
  • Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
  • Breast-ovarian cancer, familial, susceptibility to, 4 (RAD51D)
  • Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Mult
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C56

Bioinformatics and clinical interpretation

No text defined