English
Klinische FragestellungProstata-Karzinom, Keimbahn-Mutationen [uroweb guidelines]
Zusammenfassung
Kurzinformation
Umfassendes panel zur Mutationssuche bei Prostata-Karzinom-Erkrankungen mit 12 Leitlinien-kuratierten bzw. zusammen genommen 33 kuratierten Genen
ID
PP0100
Anzahl Gene
10
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
41,6 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS + SNP
[Sanger]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ATM | 9171 | NM_000051.4 | AD | |
| BRCA1 | 5592 | NM_007294.4 | AD | |
| BRCA2 | 10257 | NM_000059.4 | AD | |
| CHEK2 | 1632 | NM_007194.4 | AD | |
| HOXB13 | 855 | NM_006361.6 | n.k. | |
| MLH1 | 2271 | NM_000249.4 | AR | |
| MSH2 | 2805 | NM_000251.3 | AD, AR | |
| MSH6 | 4083 | NM_000179.3 | AD, AR | |
| NBN | 2265 | NM_002485.5 | AR | |
| PMS2 | 2589 | NM_000535.7 | AD |
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
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C61
Bioinformatik und klinische Interpretation
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