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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCancer predisposition for solid tumors, adults

Summary

Short information

A curated panel containing >100 genes for the comprehensive analysis of practically all known Cancer predispositions for solid tumors, adults; mutations in 6 genes cover the more frequent predispositions.

ID
KP1928
Number of genes
83 Accredited laboratory test
Examined sequence length
22,4 kb (Core-/Core-canditate-Genes)
212,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ATM9171AD, AR
BRCA15592AD, AR, Sus
MEN11833AD
PTEN1212AD
RET3345AD, Sus
TP531182AD
AIP993AD
APC8532AD
BAP12190AD
BMPR1A1599AD
BRCA210257AD
BRIP13750AD, Sus
CBL2721AD
CDC731596AD
CDH12649AD
CDK4912AD
CDKN1B597AD, Sus
CDKN2A471AD, Sus
CHEK21632AD
DICER15769AD, Sus
EPCAM945AD
ERCC22283AR
ERCC32349AR
ERCC42751AR
ERCC53561AR
EXT12241AD, Sus
EXT22157AD, Sus
FANCA4368AR, Sus
FANCB2580XLR, Sus
FANCC1677AR, Sus
FANCE1611AR, Sus
FANCF1125AR
FANCG1869Sus
FANCI3987AR, Sus
FANCL1128AR, Sus
FH1533AD, Sus
FLCN1740AD, Sus
HRAS570AD, Sus
KIT2931AD
KRAS567AD
MAX483AD
MET4227AD, Sus
MLH12271AD, AR, Sus
MSH22805AD, AR, Sus
MSH64083AD, AR, Sus
MUTYH1650AR, Sus
NF18457AD
NF21788AD
NRAS570AD, Sus
NTHL1915AR
PALB23561AR
PDGFRA3270AD, Sus
PMS22589AR, Sus
POLD13324AD
POLE6861AD
POLH2142AR
PRCC1476Gen Fusion
PTCH14344AD
RAD51C1131AR, Sus
RAD51D987AD
RB12787AD
RTEL13732AD, AR
SDHA1995Sus
SDHAF2501AD
SDHB843AD
SDHC510AD
SDHD480AD, AR, Sus
SHOC21749AD
SMAD41659AD
SMARCA45040AD
SMARCB11158AD
SOS14002AD
STK111302AD
SUFU1455AR
TERT3399AR
TMEM127717AD
TSC13495AD
TSC25424AD
VHL642AD
WRAP531647AR
WT11569n.k.
XPA822AR
XPC2823AR

Informations about the disease

Clinical Comment

5-10% of cancers are due to hereditary causes. Recent data sets indicate that the incidence of hereditary cancer may be as high as 17.5% in patients with cancer. Identification of germline variants has implications for both patients + their families. Germline variants occur in germ cells. Although somatic variants occur in a single cell + are passed only to the cell’s offspring, germline variants exist in all somatic cells + may influence cancer susceptibility by affecting multiple cellular processes (e.g. cancer clone growth, somatic variant acquisition rates, carcinogen metabolism). Discovery + understanding of germline variants are of major clinical importance to the patient diagnosed with hereditary cancer; the identification of an inherited variant has often therapeutic + prognostic value for a patient undergoing therapy.

 

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
  • Gen Fusion
  • Sus
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C76.-

Bioinformatics and clinical interpretation

No text defined