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Klinische FragestellungProstata-Karzinom, Keimbahn-Mutationen [uroweb guidelines]

Auftragsschein Klin. Fragestellung

Zusammenfassung

Kurzinformation

Umfassendes panel zur Mutationssuche bei Prostata-Karzinom-Erkrankungen mit 12 Leitlinien-kuratierten bzw. zusammen genommen 33 kuratierten Genen

ID
PP0100
Anzahl Gene
12 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
43,7 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS + SNP

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ATM9171NM_000051.4AD
BRCA15592NM_007294.4AD
BRCA210257NM_000059.4AD
CHEK21632NM_007194.4AD
EPCAM945NM_002354.3Sus
HOXB13855NM_006361.6n.k.
MLH12271NM_000249.4AR
MSH22805NM_000251.3AD, AR
MSH64083NM_000179.3AD, AR
NBN2265NM_002485.5AR
PMS22589NM_000535.7AD
TP531182NM_000546.6AD

Infos zur Erkrankung

Klinischer Kommentar

Frühes Einsetzen, asymptomatisch oder Uriniersymptome, erektile Dysfunktion, Knochenschmerzen, Venenkompression, infektiöses/entzündliches Syndrom durch Metastasen; Familienanamnese

 

Synonyme
  • Alias: Prostata-Karzinom, familiäres
  • Alias: Prostate cancer, familial
  • Allelic: Barrett esophagus/esophageal adenocarcinoma (MSR1)
  • Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
  • Allelic: Breast cancer, lobular (CDH1)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Breast cancer, susceptibility to (CHEK2)
  • Allelic: Breast cancer, susceptibility to (PALB2)
  • Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: Breast-ovarian cancer, familial, susceptibility to, 4 (RAD51D)
  • Allelic: Colorectal cancer, susceptibility to (CHEK2)
  • Allelic: Li-Fraumeni syndrome 2 (CHEK2)
  • Allelic: Multiple endocrine neoplasia, type IV (CDKN1B)
  • Allelic: Nabais Sa-de Vries syndrome, type 1 + 2 (SPOP)
  • Allelic: Nijmegen breakage syndrome (NBN)
  • Allelic: Renal cell carcinoma (HNF1B)
  • Allelic: Vitamin D-dependent rickets, type 3 (CYP3A4)
  • Allelic: Wilms tumor (BRCA2)
  • "Prostate cancer antimetastasis gene KAI1" (CD82)
  • Ataxia-telangiectasia (ATM)
  • Fanconi anemia, complementation group A (FANCA)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group J (BRIP1)
  • Fanconi anemia, complementation group N (PALB2)
  • Fanconi anemia, complementation group S (BRCA1)
  • Mismatch repair cancer syndrome 1, 2, 3, 4 (MLH1, MSH2, MSH6, PMS2)
  • Prostate cancer (BRCA2)
  • Prostate cancer 1 (RNASEL)
  • Prostate cancer, familial, susceptibility to (CHEK2)
  • Prostate cancer, hereditary, 1 (RNASEL)
  • Prostate cancer, hereditary, 12 (EHBP1)
  • Prostate cancer, hereditary, 13 (MSMB)
  • Prostate cancer, hereditary, 2, susceptibility to (ELAC2)
  • Prostate cancer, hereditary, 9 (HOXB13)
  • Prostate cancer, somatic (KLF6)
  • Prostate cancer, somatic (MAD1L1)
  • Prostate cancer, somatic (MXI1)
  • Prostate cancer, somatic (PTEN)
  • Prostate cancer, susceptibility to (CDH1)
  • Prostate cancer/brain cancer, susceptibility to (EPHB2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Sus
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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