Klinische FragestellungBrust- und Eierstockkrebs, hereditär (HBOC)
Zusammenfassung
Kurzinformation
BP0203_KI
ID
BP0203
Anzahl Loci
Loci-Typ | Anzahl |
---|---|
Gen | 14 |
Untersuchte Sequenzlänge
51,0 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
- Gewebeprobe
Diagnostische Hinweise
BP0203_DH
Locipanel
Gen
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ATM | 9171 | NM_000051.4 | AD | |
BARD1 | 2334 | NM_000465.4 | AR, Sus | |
BRCA1 | 5592 | NM_007294.4 | AD, Sus | |
BRCA2 | 10257 | NM_000059.4 | AD | |
BRIP1 | 3750 | NM_032043.3 | AD | |
CDH1 | 2649 | NM_004360.5 | AD, Sus | |
CHEK2 | 1632 | NM_007194.4 | AD | |
FANCM | 6147 | NM_020937.4 | AD, Sus | |
PALB2 | 3561 | NM_024675.4 | AD, Sus | |
PTEN | 1212 | NM_000314.8 | AD | |
RAD51C | 1131 | NM_058216.3 | AD | |
RAD51D | 987 | NM_002878.4 | AD | |
STK11 | 1302 | NM_000455.5 | AD | |
TP53 | 1182 | NM_000546.6 | AD, Sus |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_BP0203
Synonyme
- Alias: erblicher Brustkrebs + Eierstockkrebs
- Allelic: Adrenocortical carcinoma, pediatric (TP53)
- Allelic: Aplastic anemia (NBN)
- Allelic: Ataxia-telangiectasia (ATM)
- Allelic: Basal cell carcinoma 7 (TP53)
- Allelic: Blepharocheilodontic syndrome 1 (CDH1)
- Allelic: Bone marrow failure syndrome 5 (TP53)
- Allelic: Choroid plexus papilloma (TP53)
- Allelic: Colorectal cancer (TP53)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
- Allelic: Cowden syndrome 1 (PTEN)
- Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
- Allelic: Endometrial cancer, familial (MSH6)
- Allelic: Endometrial carcinoma, somatic (CDH1)
- 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: Fanconi anemia, complementation group U (XRCC2)
- Allelic: Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
- Allelic: Glioblastoma 3 (BRCA2)
- Allelic: Glioma susceptibility 1 (TP53)
- Allelic: Glioma susceptibility 2 (PTEN)
- Allelic: Hepatocellular carcinoma, somatic (TP53)
- Allelic: Inherited Cancer-Predisposing Syndrome [GeneCards] (RECQL)
- Allelic: Leukemia, acute lymphoblastic (NBN)
- Allelic: Lhermitte-Duclos syndrome (PTEN)
- Allelic: Li-Fraumeni syndrome (CHEK2)
- Allelic: Li-Fraumeni syndrome (TP53)
- Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
- Allelic: Lymphoma, mantle cell, somatic (ATM)
- Allelic: Macrocephaly/autism syndrome (PTEN)
- Allelic: Medulloblastoma (BRCA2)
- Allelic: Melanoma, malignant, somatic (STK11)
- Allelic: Meningioma (PTEN)
- Allelic: Mismatch repair cancer syndrome [panelapp] (MLH1, MSH2, MSH6, PMS2)
- Allelic: Muir-Torre syndrome (MLH1, MSH2, MSH6)
- Allelic: Nasopharyngeal carcinoma, somatic (TP53)
- Allelic: Nijmegen breakage syndrome (NBN)
- Allelic: Osteosarcoma (TP53)
- Allelic: Osteosarcoma, somatic (CHEK2)
- Allelic: Ovarian cancer, somatic (CDH1)
- Allelic: Pancreatic cancer 2 (BRCA2)
- Allelic: Pancreatic cancer, somatic (STK11)
- Allelic: Pancreatic cancer, somatic (TP53)
- Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
- Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
- Allelic: Peutz-Jeghers syndrome (STK11)
- Allelic: Premature ovarian failure 15 (FANCM)
- Allelic: Premature ovarian failure 17 (XRCC2)
- Allelic: Prostate cancer (BRCA2)
- Allelic: Prostate cancer, familial, susceptibility to (CHEK2)
- Allelic: Prostate cancer, susceptibility to (CDH1)
- Allelic: Spermatogenic failure (XRCC2)
- Allelic: Spermatogenic failure 28 (FANCM)
- Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
- Allelic: Testicular tumor, somatic (STK11)
- Allelic: Wilms tumor (BRCA2)
- Breast + colorectal cancer, susceptibility to (CHEK2)
- Breast cancer, early-onset, susceptibility to (BRIP1)
- Breast cancer, lobular (CDH1)
- Breast cancer, male, susceptibility to (BRCA2)
- Breast cancer, somatic (TP53)
- Breast cancer, susceptibility to (ATM)
- Breast cancer, susceptibility to (BARD1)
- Breast cancer, susceptibility to (CHEK2)
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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