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

PP0100

Anzahl Gene

10 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

41,6 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

Name	Exon-Länge (bp)	OMIM-G	Erbgang
ATM	9171	607585	AD
BRCA1	5592	113705	AD
BRCA2	10257	600185	AD
CHEK2	1632	604373	AD
HOXB13	855	604607	n.k.
MLH1	2271	120436	AR
MSH2	2805	609309	AD, AR
MSH6	4083	600678	AD, AR
NBN	2265	602667	AR
PMS2	2589	600259	AR

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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