IllnessMerkel cell carcinoma, early onset; predisposition

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Summary

Short information

A curated panel containing 5 genes for Merkel cell carcinoma.

MP0001

Number of genes

5 Accredited laboratory test

Examined sequence length

0,0 kb (Core-/Core-canditate-Genes)
27,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ATM	9171	607585	NM_000051.4	Sus
BRCA1	5592	113705	NM_007294.4	Sus
BRCA2	10257	600185	NM_000059.4	Sus
MAGT1	1104	300715	NM_032121.5	Sus
TP53	1182	191170	NM_000546.6	Sus

Informations about the disease

Clinical Comment

Das frühe Merkellzell-Karzinom kann im Rahmen eines Krebsprädispositions-Syndroms auftreten (Mohsin et al, JAMA Dermatol. 2024). Um dies genetisch abzuklären, empfehlen wir eine weiterführende Keimbahndiagnostik der 5 Kandidaten-Gene. Bitte schicken Sie uns (amedes genetics) hierfür den beiliegenden Einsendeschein und die Einwilligung nach dem Gendiagnostikgesetz mit EDTA-Blut und einem Überweisungsschein zu. Bei Fragen melden Sie sich gerne bei unserem GenService unter 0511-301795185 oder schicken eine Mail an: genservice@amedes-group.com.

Synonyms

Alias: Merkel cell carcinoma
Alias: Merkel-Zell-Karzinom, frühes; Prädisposition
Alias: Merkelzellkarzinom, frühes; Prädisposition
Allelic: Adrenocortical carcinoma, pediatric (TP53)
Allelic: Ataxia-telangiectasia (ATM)
Allelic: Basal cell carcinoma 7 (TP53)
Allelic: Bone marrow failure syndrome 5 (TP53)
Allelic: Breast cancer, male, susceptibility to (BRCA2)
Allelic: Breast cancer, susceptibility to (ATM)
Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
Allelic: Choroid plexus papilloma (TP53)
Allelic: Colorectal cancer (TP53)
Allelic: Congenital disorder of glycosylation, type Icc (MAGT1)
Allelic: Fanconi anemia, complementation group D1 (BRCA2)
Allelic: Fanconi anemia, complementation group S (BRCA1)
Allelic: Glioblastoma 3 (BRCA2)
Allelic: Glioma susceptibility 1 (TP53)
Allelic: Immunodeficiency, XL,+ magnesium defect, EBV infection + neoplasia (MAGT1)
Allelic: Li-Fraumeni syndrome (TP53)
Allelic: Medulloblastoma (BRCA2)
Allelic: Pancreatic cancer 2 (BRCA2)
Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
Allelic: Prostate cancer (BRCA2)
Allelic: Wilms tumor (BRCA2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined