Klinische FragestellungFAMMM-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für FAMMM Syndrom mit 2 "core candidate"-Genen bzw. insgesamt 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
FP0010
Anzahl Gene
13
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,4 kb (Core-/Core-canditate-Gene)
27,7 kb (Erweitertes Panel: inkl. additional genes)
27,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
CDK4 | 912 | NM_000075.4 | AD | |
CDKN2A | 471 | NM_000077.5 | AD | |
ACD | 1647 | NM_001082486.2 | AD, AR | |
BAP1 | 2190 | NM_004656.4 | AD | |
BRCA2 | 10257 | NM_000059.4 | AR | |
MC1R | 954 | NM_002386.4 | AR | |
MITF | 1260 | NM_000248.4 | AD | |
POT1 | 1905 | NM_015450.3 | Sus | |
PTEN | 1212 | NM_000314.8 | AD | |
TERF2IP | 1203 | NM_018975.4 | n.k. | |
TERT | 3399 | NM_198253.3 | AD, AR | |
TP53 | 1182 | NM_000546.6 | AD | |
XRCC3 | 1041 | NM_005432.4 | AD |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_FP0010
Synonyme
- Alias: BAP1 cancer syndrome (BAP1)
- Alias: BAP1 tumor predisposition syndrome (BAP1)
- Alias: FAMM-PC syndrome
- Alias: Familial atypical mole-malignant melanoma syndrome (FAMMM)
- Alias: Familial atypical multiple mole melanoma syndrome
- Alias: Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
- Alias: Familial dysplastic naevus syndrome
- Allelic: Adrenocortical carcinoma, pediatric (TP53)
- Allelic: Analgesia from kappa-opioid receptor agonist, female-specific (MC1R)
- Allelic: Bone marrow failure syndrome 5 (TP53)
- Allelic: Breast cancer, male, susceptibility to (BRCA2)
- Allelic: Breast cancer, somatic (TP53)
- Allelic: Breast cancer, susceptibility to (XRCC3)
- Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
- Allelic: COMMAD syndrome (MITF)
- Allelic: Colorectal cancer (TP53)
- Allelic: Cowden syndrome 1 (PTEN)
- Allelic: Dyskeratosis congenita, AD 2 (TERT)
- Allelic: Fanconi anemia, complementation group D1 (BRCA2)
- Allelic: Glioblastoma 3 (BRCA2)
- Allelic: Glioma susceptibility 1 (TP53)
- Allelic: Glioma susceptibility 2 (PTEN)
- Allelic: Glioma susceptibility 9 (POT1)
- Allelic: Leukemia, acute myeloid (TERT)
- Allelic: Lhermitte-Duclos syndrome (PTEN)
- Allelic: Macrocephaly/autism syndrome (PTEN)
- Allelic: Medulloblastoma (BRCA2)
- Allelic: Meningioma (PTEN)
- Allelic: Osteosarcoma (TP53)
- Allelic: Pancreatic cancer 2 (BRCA2)
- Allelic: Pancreatic cancer, somatic (TP53)
- Allelic: Prostate cancer (BRCA2)
- Allelic: Prostate cancer, somatic (PTEN)
- Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
- Allelic: Skin/hair/eye pigmentation 2, blond hair/fair skin (MC1R)
- Allelic: Skin/hair/eye pigmentation 2, red hair/fair skin (MC1R)
- Allelic: Tietz albinism-deafness syndrome (MITF)
- Allelic: Waardenburg syndrome, type 2A (MITF)
- Allelic: Waardenburg syndrome/ocular albinism, digenic (MITF)
- Allelic: Wilms tumor (BRCA2)
- Atypical melanocytic proliferations + other internal neoplasms, COMMON syndrome (BAP1)
- Basal cell carcinoma 7 (TP53)
- Choroid plexus papilloma (TP53)
- Cutaneous/ocular melanoma (BAP1)
- Dyskeratosis congenita, AD 6 (ACD)
- Dyskeratosis congenita, AR 4 (TERT)
- Dyskeratosis congenita, AR 7 (ACD)
- Li-Fraumeni syndrome (TP53)
- Melanoma + neural system tumor syndrome (CDKN2A)
- Melanoma, cutaneous malignant, 2 (CDKN2A)
- Melanoma, cutaneous malignant, 3 (CDK4)
- Melanoma, cutaneous malignant, 5 (MC1R)
- Melanoma, cutaneous malignant, 6 (XRCC3)
- Melanoma, cutaneous malignant, 9 (TERT)
- Melanoma, cutaneous malignant, susceptibility to, 10 (POT1)
- Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
- Melanoma, familial (TERF2IP)
- Melanoma-pancreatic cancer syndrome (CDKN2A)
- UV-induced skin damage (MC1R)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- Sus
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
C43.-
Bioinformatik und klinische Interpretation
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