English
ErkrankungProstata-Karzinom [uroweb guidelines]
Zusammenfassung
Kurzinformation
Umfassendes panel zur Mutationssuche bei Prostata-Karzinom-Erkrankungen mit 10 Leitlinien-kuratierten bzw. zusammen genommen 31 kuratierten Genen
ID
PP0100
Anzahl Gene
28
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
41,6 kb (Core-/Basis-Gene)
76,6 kb (Erweitertes Panel)
76,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS + SNP
[Sanger]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| ATM | 9171 | AD und/oder AR und/oder SMu und/oder Sus | |
| BRCA1 | 5592 | AD und/oder AR und/oder SMu und/oder Sus | |
| BRCA2 | 10257 | AD und/oder AR und/oder SMu und/oder Sus | |
| CHEK2 | 1632 | AD und/oder SMu | |
| HOXB13 | 855 | Mult und/oder SMu | |
| MLH1 | 2271 | AD und/oder AR und/oder Sus | |
| MSH2 | 2805 | AD und/oder AR und/oder Sus | |
| MSH6 | 4083 | AD und/oder AR und/oder Sus | |
| NBN | 2265 | AR und/oder Ass | |
| PMS2 | 2589 | AR und/oder Sus | |
| AR | 2763 | XLR und/oder SMu | |
| BRIP1 | 3750 | AD und/oder Sus | |
| CD82 | 729 | Ass | |
| CDH1 | 2649 | AD und/oder SMu und/oder Sus | |
| CDKN1B | 597 | AD und/oder Sus | |
| CYP3A4 | 1512 | AD und/oder Ass | |
| EHBP1 | 3591 | Ass | |
| ELAC2 | 2481 | AR und/oder Ass | |
| FANCA | 4368 | AR und/oder Sus | |
| HNF1B | 1674 | AD und/oder Sus | |
| KLF6 | 726 | SMu und/oder Sus | |
| MSMB | 345 | Ass | |
| MSR1 | 1356 | AD und/oder Sus | |
| MXI1 | 549 | SMu | |
| PALB2 | 3561 | AD und/oder Sus | |
| RAD51D | 987 | AD und/oder SMu | |
| RNASEL | 2226 | AD und/oder Ass | |
| SPOP | 1125 | AD und/oder Ass |
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 und/oder AR und/oder SMu und/oder Sus
- AD und/oder AR und/oder Sus
- AD und/oder Ass
- AD und/oder SMu
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
- AR und/oder Ass
- AR und/oder Sus
- Ass
- Mult und/oder SMu
- SMu
- SMu und/oder Sus
- XLR und/oder SMu
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C61
Bioinformatik und klinische Interpretation
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