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

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

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Sanger

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
BRCA1	5592	113705	NM_007294.4	AD, Mult
BRCA2	10257	600185	NM_000059.4	AD, Sus
BRIP1	3750	605882	NM_032043.3	Sus
MLH1	2271	120436	NM_000249.4	AD, Sus
MLH3	4362	604395	NM_001040108.2	AD
MSH2	2805	609309	NM_000251.3	AD, Sus
MSH6	4083	600678	NM_000179.3	AD, Sus
PMS2	2589	600259	NM_000535.7	Sus, AD
RAD51C	1131	602774	NM_058216.3	AD, Sus
RAD51D	987	602954	NM_002878.4	AD
EPCAM	945	185535	NM_002354.3	Sus
PALB2	3561	610355	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