IllnessCancer predisposition for solid tumors, adults
Summary
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.
212,7 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
ATM | 9171 | AD, AR | |
BRCA1 | 5592 | AD, AR, Sus | |
MEN1 | 1833 | AD | |
PTEN | 1212 | AD | |
RET | 3345 | AD, Sus | |
TP53 | 1182 | AD | |
AIP | 993 | AD | |
APC | 8532 | AD | |
BAP1 | 2190 | AD | |
BMPR1A | 1599 | AD | |
BRCA2 | 10257 | AD | |
BRIP1 | 3750 | AD, Sus | |
CBL | 2721 | AD | |
CDC73 | 1596 | AD | |
CDH1 | 2649 | AD | |
CDK4 | 912 | AD | |
CDKN1B | 597 | AD, Sus | |
CDKN2A | 471 | AD, Sus | |
CHEK2 | 1632 | AD | |
DICER1 | 5769 | AD, Sus | |
EPCAM | 945 | AD | |
ERCC2 | 2283 | AR | |
ERCC3 | 2349 | AR | |
ERCC4 | 2751 | AR | |
ERCC5 | 3561 | AR | |
EXT1 | 2241 | AD, Sus | |
EXT2 | 2157 | AD, Sus | |
FANCA | 4368 | AR, Sus | |
FANCB | 2580 | XLR, Sus | |
FANCC | 1677 | AR, Sus | |
FANCE | 1611 | AR, Sus | |
FANCF | 1125 | AR | |
FANCG | 1869 | Sus | |
FANCI | 3987 | AR, Sus | |
FANCL | 1128 | AR, Sus | |
FH | 1533 | AD, Sus | |
FLCN | 1740 | AD, Sus | |
HRAS | 570 | AD, Sus | |
KIT | 2931 | AD | |
KRAS | 567 | AD | |
MAX | 483 | AD | |
MET | 4227 | AD, Sus | |
MLH1 | 2271 | AD, AR, Sus | |
MSH2 | 2805 | AD, AR, Sus | |
MSH6 | 4083 | AD, AR, Sus | |
MUTYH | 1650 | AR, Sus | |
NF1 | 8457 | AD | |
NF2 | 1788 | AD | |
NRAS | 570 | AD, Sus | |
NTHL1 | 915 | AR | |
PALB2 | 3561 | AR | |
PDGFRA | 3270 | AD, Sus | |
PMS2 | 2589 | AR, Sus | |
POLD1 | 3324 | AD | |
POLE | 6861 | AD | |
POLH | 2142 | AR | |
PRCC | 1476 | Gen Fusion | |
PTCH1 | 4344 | AD | |
RAD51C | 1131 | AR, Sus | |
RAD51D | 987 | AD | |
RB1 | 2787 | AD | |
RTEL1 | 3732 | AD, AR | |
SDHA | 1995 | Sus | |
SDHAF2 | 501 | AD | |
SDHB | 843 | AD | |
SDHC | 510 | AD | |
SDHD | 480 | AD, AR, Sus | |
SHOC2 | 1749 | AD | |
SMAD4 | 1659 | AD | |
SMARCA4 | 5040 | AD | |
SMARCB1 | 1158 | AD | |
SOS1 | 4002 | AD | |
STK11 | 1302 | AD | |
SUFU | 1455 | AR | |
TERT | 3399 | AR | |
TMEM127 | 717 | AD | |
TSC1 | 3495 | AD | |
TSC2 | 5424 | AD | |
VHL | 642 | AD | |
WRAP53 | 1647 | AR | |
WT1 | 1569 | n.k. | |
XPA | 822 | AR | |
XPC | 2823 | AR |
Informations about the disease
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.
- 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)
- AD
- AR
- Gen Fusion
- Sus
- XLR
- n.k.
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
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