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IllnessTumour intersecting set panel

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Summary

Short information

An especially assembled panel comprising 29 kurated genes

ID
TP0815
Number of loci
Locus typeCount
Gen 29
Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
87,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
APC8532NM_000038.6AD
ATM9171NM_000051.4AD, AR
BAP12190NM_004656.4AD
BMPR1A1599NM_004329.3AD
BRCA15592NM_007294.4AD, AR, Mult, SMu, Sus
BRCA210257NM_000059.4AD, AR, SMu, Sus
BRIP13750NM_032043.3AD, Sus
CDH12649NM_004360.5AD
CDK4912NM_000075.4AD
CDKN2A471NM_000077.5AD, Sus
CHEK21632NM_007194.4AD
EPCAM945NM_002354.3AD
GREM1555NM_013372.7AD
HOXB13855NM_006361.6n.k.
MLH12271NM_000249.4AD, AR, Sus
MSH22805NM_000251.3AD, AR, Sus
MSH64083NM_000179.3AD, AR, Sus
MUTYH1650NM_001128425.2AR, Sus
PALB23561NM_024675.4AD
PALLD3372NM_016081.4Sus
PMS22589NM_000535.7AD, Sus, AR
POLD13324NM_002691.4AD
POLE6861NM_006231.4AD, Sus
PTEN1212NM_000314.8AD, AR
RAD51C1131NM_058216.3AD
RAD51D987NM_002878.4AD
SMAD41659NM_005359.6AD
STK111302NM_000455.5AD
TP531182NM_000546.6AD

Informations about the disease

Synonyms
  • Alias: Solid cancer predisposition genes
  • Allelic: Adrenal adenoma, somatic (MEN1)
  • Allelic: Angiofibroma, somatic (MEN1)
  • Allelic: Ataxia-telangiectasia (ATM)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
  • Allelic: Central hypoventilation syndrome, congenital (RET)
  • Allelic: Fanconi anemia, complementation group S (BRCA1)
  • Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
  • Allelic: Lhermitte-Duclos syndrome (PTEN)
  • Allelic: Lipoma, somatic (MEN1)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Multiple endocrine neoplasia 1 (MEN1)
  • Allelic: Parathyroid adenoma, somatic (MEN1)
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
  • Adrenocortical carcinoma, pediatric (TP53)
  • Basal cell carcinoma 7 (TP53)
  • Breast cancer, somatic (TP53)
  • Breast cancer, susceptibility to (ATM)
  • Breast-ovarian cancer, familial, 1 (BRCA1)
  • Carcinoid tumor of lung (MEN1)
  • Cardiofaciocutaneous syndrome (BRAF)
  • Cardiofaciocutaneous syndrome 3 (MAP2K1)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Cerebrooculofacioskeletal syndrome 4 (ERCC1)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Choroid plexus papilloma (TP53)
  • Colorectal cancer (TP53)
  • Cowden syndrome 1 (PTEN)
  • DNA damage repair defect [panelapp] (ZNF668)
  • Dyskeratosis congenita, AD 3 (TINF2)
  • Dyskeratosis congenita, AD 6 (ACD)
  • Dyskeratosis congenita, AR 6 (PARN)
  • Dyskeratosis congenita, AR 7 (ACD)
  • Dyskeratosis congenita, XL (DKC1)
  • Fanconi anemia, complementation group D2 (FANCD2)
  • Fanconi anemia, complementation group P (SLX4)
  • Glioma susceptibility 1 (TP53)
  • Glioma susceptibility 2 (PTEN)
  • Hepatocellular carcinoma, somatic (TP53)
  • IUGR, short stature, failure to thrive, body asymmetry [panelapp] (NLRP5)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • LEOPARD syndrome 3 (BRAF)
  • Li-Fraumeni syndrome (TP53)
  • Lymphoma, B-cell non-Hodgkin, somatic (ATM)
  • Lymphoma, mantle cell, somatic (ATM)
  • Maternal effect gene causing phenotypes that include IUGR [panelapp] (NLRP2)
  • Medullary thyroid carcinoma (RET)
  • Meningioma (PTEN)
  • Microcephaly, growth deficiency, global dev. delay, brain malformation [panelapp] (ZNF668)
  • Multilocus imprinting disturbances [panelapp] (NLRP5)
  • Multiple endocrine neoplasia IIA, IIB (RET)
  • Nasopharyngeal carcinoma, somatic (TP53)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 10 (LZTR1)
  • Noonan syndrome 2 (LZTR1)
  • Noonan syndrome 5 (RAF1)
  • Noonan syndrome 7 (BRAF)
  • Noonan syndrome 8 (RIT1)
  • Noonan syndrome 9 (SOS2)
  • Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
  • Osteosarcoma (TP53)
  • Pancreatic cancer, somatic (TP53)
  • Pancreatic cancer, susceptibility to, 4 (BRCA1)
  • Pheochromocytoma (RET)
  • Prostate cancer, somatic (PTEN)
  • Renal cell carcinoma, papillary (PRCC)
  • Revesz syndrome (TINF2)
  • Schwannomatosis-2, susceptibility to (LZTR1)
  • T-cell prolymphocytic leukemia, somatic (ATM)
  • Xeroderma pigmentosum, group E, DDB-negative subtype (DDB2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Mult
  • SMu
  • Sus
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined