Deutsch
IllnessOvarian cancer, familial; susceptibility
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 loci
| Locus type | Count |
|---|---|
| Gen | 12 |
Examined sequence length
37,9 kb (Core-/Core-canditate-Genes)
42,4 kb (Extended panel: incl. additional 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
Loci
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| BRCA1 | 5592 | NM_007294.4 | AD, Mult | |
| BRCA2 | 10257 | NM_000059.4 | AD, Sus | |
| BRIP1 | 3750 | NM_032043.3 | Sus | |
| MLH1 | 2271 | NM_000249.4 | AD, Sus | |
| MLH3 | 4362 | NM_001040108.2 | AD | |
| MSH2 | 2805 | NM_000251.3 | AD, Sus | |
| MSH6 | 4083 | NM_000179.3 | AD, Sus | |
| PMS2 | 2589 | NM_000535.7 | Sus, AD | |
| RAD51C | 1131 | NM_058216.3 | AD, Sus | |
| RAD51D | 987 | NM_002878.4 | AD | |
| EPCAM | 945 | NM_002354.3 | Sus | |
| PALB2 | 3561 | NM_024675.4 | AD, 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