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Klinische FragestellungBrust- und Eierstockkrebs, hereditär (HBOC)

Zusammenfassung

Kurzinformation

BP0203_KI

ID
BP0203
Anzahl Loci
Loci-TypAnzahl
Gen14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
51,0 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
  • Gewebeprobe
Diagnostische Hinweise

BP0203_DH

 

Locipanel

Gen

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ATM9171NM_000051.4AD
BARD12334NM_000465.4AR, Sus
BRCA15592NM_007294.4AD, Sus
BRCA210257NM_000059.4AD
BRIP13750NM_032043.3AD
CDH12649NM_004360.5AD, Sus
CHEK21632NM_007194.4AD
FANCM6147NM_020937.4AD, Sus
PALB23561NM_024675.4AD, Sus
PTEN1212NM_000314.8AD
RAD51C1131NM_058216.3AD
RAD51D987NM_002878.4AD
STK111302NM_000455.5AD
TP531182NM_000546.6AD, 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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