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

IllnessOvarian cancer, familial; susceptibility

Request form illness
Order shipping materials

Summary

Short information

Comprehensive 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
12 Accredited laboratory test
Examined sequence length
37,9 kb (Core-/Core-canditate-Genes)
42,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BRCA15592NM_007294.4AD, Mult
BRCA210257NM_000059.4AD, Sus
BRIP13750NM_032043.3Sus
MLH12271NM_000249.4AD, Sus
MLH34362NM_001040108.2AD
MSH22805NM_000251.3AD, Sus
MSH64083NM_000179.3AD, Sus
PMS22589NM_000535.7Sus, AD
RAD51C1131NM_058216.3AD, Sus
RAD51D987NM_002878.4AD
EPCAM945NM_002354.3Sus
PALB23561NM_024675.4AD, Sus

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
  • Mult
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined