Target List
Covers all exons in all known transcripts of targeted genes based on the Human GRCh38 genome build
Central Nervous System Cancers
Anaplastic Glial Tumors
CDKN2A (P16INK4A), CDKN2B (p15INK4b), PTEN, RB1, TP53 (p53)
Astrocytomas
APC, ATRX, BRAF, CDKN2A (P16INK4A), CDKN2B (p15INK4b), CDKN2B-AS1, CHEK2 (RAD53), FGFR1, HIPK2, HRAS, IDH1, MSH2, MYB, NF1, PALB2, PTPN11, RB1, SDHA, TP53 (p53), TSC1
Atypical Teratoid Rhabdoid Tumors
SMARCA4, SMARCB1
Craniopharyngiomas
BRAF, CTNNB1
Ependymomas
CDKN2A (P16INK4A), ERBB2 (HER-2, NEU), MEN1, NF2, TP53 (p53)
Ganglioneuromas
ALK, PHOX2B
Glioblastomas
ALK, APC, BCOR, BRAF, BRCA2, CDK4, CDKN2A (P16INK4A), CDKN2B (p15INK4b), CREBBP (CBP), EGFR (ERBB1), EPCAM, ERBB2 (HER-2, NEU), IDH1, KIT (CD117), LZTR1, MLH1, MSH2, MSH6, MTOR, MYC, NRAS, PIK3CA (p110-alpha), PMS2, PTEN, RB1, TP53 (p53)
Gliomas
ACVR1 (ALK2), ADGRB3, ATRX, BRAF, BRCA2, BRIP1, CDKN2A (P16INK4A), CHD2, CHEK2 (RAD53), CIC, EGFR (ERBB1), EP300, FGFR1, FLT1 (VEGFR1), H3-3A, IDH1, IRS2, MDM4, MYB, MYCN, NF1, NSD2, PDGFRA, PIK3CA (p110-alpha), POT1, PTEN, STYK1, TP53 (p53)
Hereditary Paraganglioma-Pheochromocytoma Syndrome
MAX, SDHAF2, SDHB, SDHC, SDHD, TMEM127
Intercranial Ependymomas
CDKN2A (P16INK4A), CDKN2B (p15INK4b)
Lynch Syndrome
EPCAM, MLH1, MSH2, MSH6, PMS2
Medulloblastomas
ALPK2, APC, BRCA2, CACNA1D, CDH1 (E-Cadherin), CDK4, CHD7, CLTCL1, CREBBP (CBP), CTCF, CTNNB1, DDX3X, DDX60, DEPDC5, DICER1, DNAH14, DYNC1H1, ERBB2 (HER-2, NEU), FAP, FCRL2, FGFR1, GABRG1, GPAM, HDAC9, IDH1, IFIT3, IRX2, KAT6A, KDM4C, KDM6A, KIF7, KMT2B, KMT2D, LRRK1, LRRK2, MAST4, MSH2, MYC, MYCN, NCAPD3, NLRP5, NRAS, NRP1, OTOF, OTX2, PARP2, PCDHGB3, PFKP, PIK3CA (p110-alpha), PRKAG2, PRLR, PTCH1, PTCH2, PTEN, RAB11FIP1, RB1, SF3B1, SMARCA4, SMARCB1, SUFU, TP53 (p53), TPO, TTN, WDFY3, WDFY4, WRN, ZMYM3
Meningiomas
CDKN2A (P16INK4A), CDKN2B (p15INK4b), G6PD, MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU
Neuroblastomas
ALK, BRCA1, BRCA2, DICER1, EZH2, HRAS, KIF1B, NRAS, PHOX2B, PTCH1, PTPN11, SMARCA4, TP53 (p53)
Neurofibromas
EPCAM, MLH1, MSH2, MSH6, NF1, PMS2
Neurofibromatosis
NF1, NF2
Oligodendrogliomas
CDKN2A (P16INK4A), CDKN2B (p15INK4b), IDH1, MSH2, RB1
Tuberous Sclerosis Complex
TSC1, TSC2
Other Central Nervous System Cancer Genes
AIP, CDKN1B (P27KIP1), EPHB2, PRKAR1A, VHL
Colorectal Cancers
Adenocarcinomas
APC, ATM, AXIN2, BMPR1A (ALK3), BRAF, BRCA1, BRCA2, CHEK2 (RAD53), EP300, FLCN, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NRAS, PALB2, PMS1, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4 (MADH4), STK11 (LKB1), TGFBR2, TP53 (p53)
Colorectal Cancer Susceptibility
CCND1, GALNT12, POLD1, POLE, SMAD7
Familial Adenomatous Polyposis
APC, MSH3, MUTYH, NTHL1, POLD1, POLE
Hereditary Mixed Polyposis Syndrome
BMPR1A (ALK3), GREM1
Hereditary Nonpolyposis
BRAF, EPCAM, MLH1, MLH3, MSH2, MSH6, PMS1, PMS2, TGFBR2
Hereditary Polyposis Syndrome
BMPR1A (ALK3), GREM1
Juvenile Polyposis Syndrome
BMPR1A (ALK3), SMAD4 (MADH4)
Lynch Syndrome
BRAF, EPCAM, MLH1, MLH3, MSH2, MSH6, PMS1, PMS2, TGFBR2
Metastatic Colorectal Cancers
ATM, BRAF, NRAS
Muir-Torre Syndrome
MLH1, MSH2
Other Colorectal Cancer Genes
AURKA, BLM, CDH1 (E-Cadherin), PKHD1, PLA2G2A, RB1, RPS20, SEMA4A, TLR2, XRCC2
Gastric Cancers
Gastrointestinal Stromal Tumors (GIST)
KIT (CD117), NF1, PDGFRA, SDHB, SDHC, SDHD, TMEM127
Lynch Syndrome
EPCAM, MLH1, MSH2, MSH6, PMS2
Multiple Endocrine Neoplasia
CDKN1B (P27KIP1), MEN1
Other Gastric Cancer Genes
APC, ATM, BMPR1A (ALK3), CDH1 (E-Cadherin), CHEK2 (RAD53), CTNNA1, KRAS, SMAD4 (MADH4), STK11 (LKB1), TP53 (p53)
Hematological Malignancies
Eosinophilia
CR2, JAK1
Lymphoproliferative Disorders
PLAA, SH2D1A, XIAP
Mastocytosis
DNMT3A, IDH2, KIT (CD117), NRAS, RUNX1 (AML1)
Multiple Myeloma
ATM, CCND1, IDH1, IDH2, KIT (CD117), LIG4, NRAS, TP53 (p53)
Myelodysplastic Syndromes
CEBPA, DNMT3A, GATA2, GNB1, IDH1, IDH2, KIT (CD117), MPL, MSH6, NF1, NRAS, RUNX1 (AML1), SMAD9, TERC, TERT, TP53 (p53)
Myelofibrosis
DNMT3A, IDH1, IDH2, MPL, NF1, NRAS, TP53 (p53)
Myeloproliferative Neoplasms
DNMT3A, IDH1, IDH2, MPL, RUNX1 (AML1), SH2B3, TP53 (p53)
Polycythemia Vera
DNMT3A, IDH1, NRAS, TP53 (p53)
Thrombocythemia
IDH2, MPL, SH2B3, THPO, TP53 (p53)
Other Hematological Malignancies Genes
BLM, EPCAM, HRAS, MLH1, MSH2, NBN, PMS2
Hereditary Breast & Ovarian Cancers (HBOC)
Familial Breast-Ovarian Cancer Susceptibility
BRCA1, BRCA2, FGFR2, MAP3K1 (MEKK1), RAD51C, RAD51D, TOX3
Breast Cancer Carcinomas
ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2 (RAD53), ERBB2 (HER-2, NEU), ESR1 (ERα), MLH1, MSH2, MSH6, PALB2, PIK3CA (p110-alpha), PMS2, RAD51C, RAD51D
Breast Cancer Ductal Carcinomas
CDH1 (E-Cadherin), FGFR2, MRE11, NBN, STK11 (LKB1), TP53 (p53)
Breast Cancer Susceptibility
BARD1, BRCA2, PALB2, RECQL, XRCC3
Metastatic Breast Cancers
BRCA1, BRCA2, ERBB2 (HER-2, NEU), ESR1 (ERα), NF1, PALB2, PIK3CA (p110-alpha), PTEN
Other Breast Cancer Genes
APC, AXIN2, SDHB, SMARCA4, TSHR
Ovarian Cancer Epithelial Carcinomas
ABRAXAS1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2 (RAD53), ERBB2 (HER-2, NEU), MRE11, NBN, NF1, PALB2, PIK3CA (p110-alpha), PTEN, RAD51C, RAD51D, TP53 (p53)
Ovarian Cancer Mixed Adenosquamous Carcinomas
BLM, CDH1 (E-Cadherin), DICER1, FANCC, FANCM, FGFR2, RAD50, RAD51, SMARCA4, STK11 (LKB1)
Other Ovarian Cancer Genes
MLH1, RECQL, RINT1, XRCC2
Uterine Serous Carcinomas
BLM, CDH1 (E-Cadherin), DICER1, FANCC, FANCM, FGFR2, RAD50, RAD51, SMARCA4
Lynch Syndrome
EPCAM, MLH1, MSH2, MSH6, PMS2
Other Hereditary Breast & Ovarian Cancer Genes
HMMR, MUTYH, NQO2, PGR, PHB, POLD1, PRKAR1A
Kidney Cancers
Hamartomas
CDC73, DIS3L2
Lynch Syndrome
EPCAM, MLH1, MSH6, PMS2
Nephroblastomas
CDKN1C (p57Kip2), DIS3L2, TRIM28
Papillary Renal Cell Carcinomas
FH, MET
Renal Cell Carcinomas
BAP1, BRAF, FGFR3, FH, FLCN, HNF1A, HNF1B, MET, MITF, MSH2, MTOR, NRAS, PIK3CA (p110-alpha), PTEN, SDHA, SDHB, SDHC, SDHD, TMEM127, TP53 (p53), VHL
Rhabdoid Tumors
SMARCA4, SMARCB1
Tuberous Sclerosis Complex
TSC1, TSC2
Wilms Tumors
BRAF, BRCA2, CDC73, CDKN1C (p57Kip2), DICER1, DIS3L2, FZD6, GPC3, PAX6, REST, VHL, WT1
Other Kidney Cancer Genes
BUB1B
Myeloid Neoplasms
Acute Lymphoblastic Leukemia (ALL)
BRAF, CDKN2A (P16INK4A), CDKN2B (p15INK4b), CREBBP (CBP), EP300, ETV6, EZH2, FBXW7, FLT3, GATA3, H2AC7, H2BC6, H2BC7, H3C4, H4C4, IKZF1, IKZF2, IKZF3, IL7R, JAK1, JAK2, JAK3, KRAS, MAPK1 (ERK2), NF1, NOTCH1, NRAS, PAG1, PAX5, PTEN, PTPN11, RB1, RUNX1 (AML1), SH2B3, TP53 (p53)
Acute Megakaryoblastic Leukemia (AMKL)
ERG, GATA1, JAK2, MET, MPL, OLIG2, RUNX1 (AML1), SMO, TMPRSS2
Acute Myeloid Leukemia (AML)
BRCA2, CEBPA, CHIC2, DDX41, DNMT3A, ETV6, FLT3, GATA1, GATA2, IDH1, IDH2, IKZF1, IKZF2, IKZF3, JAK2, KIT (CD117), KRAS, LPP, MLLT10, NRAS, PTPN11, RB1, RUNX1 (AML1), SH3GL1, TERT, TP53 (p53), WT1
Acute Promyelocytic Leukemia (APML; APL)
CEBPA, RUNX1 (AML1)
Atypical Chronic Myeloid Leukemia (aCML)
CBL, CEBPA, EZH2, FLT3, JAK2, KRAS, NRAS, RUNX1 (AML1), SETBP1
B Cell Acute Lymphoblastic Leukemia (B-ALL)
IKZF1, JAK1, JAK2, PAX5
Chronic Lymphocytic Leukemia (CLL)
BRAF, GNB1, NOTCH1, NRAS, PTPN11, TP53 (p53)
Chronic Myeloid Leukemia (CML)
BRAF, CBL, CREBBP (CBP), DNMT3A, EZH2, IDH1, IDH2, IKZF1, JAK2, KRAS, NRAS, RUNX1 (AML1), TP53 (p53), WT1
Chronic Myelomonocytic Leukemia (CMML)
CBL, CEBPA, DNMT3A, EZH2, FLT3, IDH1, IDH2, JAK2, KIT (CD117), KRAS, MPL, NF1, NRAS, PHF6, PTPN11, RUNX1 (AML1), SETBP1, TP53 (p53)
Early T-Cell Precursor Acute Lymphoblastic Leukemia
BCL11B, BRAF, CDKN2A (P16INK4A), CDKN2B (p15INK4b), CTCF, DCLRE1C, DNM2, ECT2L, EED, EP300, ETV6, EZH2, FBXW7, FLT3, GATA2, GATA3, H1-5, HNRNPA1, HNRNPR, IKZF1, IL7R, JAK1, JAK3, KRAS, LEF1, LMO2, MYB, NF1, NOTCH1, NRAS, PHF6, PTEN, PTPN11, RB1, RELN, RUNX1 (AML1), SETD2, SH2B3, SUZ12, TAL1, WT1
Hairy Cell Leukemia
BRAF, TP53 (p53)
Juvenile Myelomonocytic Leukemia
CBL, KRAS, NF1, NRAS, PTPN11
T Cell Acute Lymphoblastic Leukemia (T-ALL)
FBXW7, NOTCH1
Other Leukemia Genes
APC, ATM, CDH1 (E-Cadherin), DICER1, DNAJC21, ERBB3, ERCC2 (XPD), ERCC4, KCNQ1, MSH2, MSH6, MUTYH, NBN, NSD1, RECQL4, RET, SOS1, STK11 (LKB1), TSC2
Acute Lymphoblastic Lymphomas
CDKN2A (P16INK4A), CDKN2B (p15INK4b), NOTCH1, TP53 (p53)
B Cell Lymphomas
BRAF, CHEK2 (RAD53), EZH2, TP53 (p53)
Follicular Lymphomas
CREBBP (CBP), EP300, EZH2
Non-Hodgkin Lymphomas
BRAF, NRAS, PIK3CA (p110-alpha), TP53 (p53)
T Cell Lymphomas
ATM, DNMT3A, HAVCR2, IDH1, IDH2, JAK1, JAK3, SETD2
Other Lymphoma Genes
B2M, BRCA2, CEBPA, KIT (CD117), KLHDC8B, MSH2, MSH6, MUTYH, PRF1, PTPN11, RB1, RECQL4, RET, STK11 (LKB1), TSC2
Myelodysplastic Syndromes
CBL, CEBPA, DDX41, DNMT3A, ETV6, EZH2, FLT3, GATA2, GNB1, IDH1, IDH2, JAK2, JAK3, KIT (CD117), KRAS, MPL, NF1, NRAS, PHF6, PTPN11, RUNX1 (AML1), SETBP1, TERC, TERT, TP53 (p53), WT1
Myeloproliferative Neoplasms
CBL, DNMT3A, EZH2, IDH1, IDH2, JAK2, MPL, RUNX1 (AML1), SH2B3, TP53 (p53)
Essential Thrombocythemia
CBL, IDH2, JAK2, MPL, TP53 (p53)
Fanconi Anemia
FANCA, FANCB, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCM, SLX4
Mastocytosis
CBL, EZH2, IDH2, JAK2, KIT (CD117), KRAS, NRAS, RUNX1 (AML1)
Multiple Myeloma
ATM, BRAF, BRCA2, CHEK2 (RAD53), FANCL, IDH1, IDH2, KIT (CD117), KRAS, MET, NRAS, RET, TP53 (p53)
Polycythemia Vera
DNMT3A, EZH2, IDH1, JAK2, NRAS, TP53 (p53)
Primary Myelofibrosis
CBL, DNMT3A, EZH2, IDH1, IDH2, JAK2, MPL, NF1, NRAS, SETBP1, TP53 (p53)
Systemic Mastocytosis
CBL, DNMT3A, ETV6, EZH2, IDH2, JAK2, KIT (CD117), KRAS, NRAS, RUNX1 (AML1), SETBP1
Pancreatic Cancers
Adenocarcinomas
ATM, BRCA1, BRCA2, CDKN2A (P16INK4A), CFTR, EPCAM, FANCC, MLH1, MSH2, MSH6, PALB2, PALLD, PMS2, PRSS1, SMAD4 (MADH4), SPINK1, STK11 (LKB1), TP53 (p53)
Adenomas
TSC1, TSC2
Familial Pancreatic Cancers
ATM, BRCA2, CDKN2A (P16INK4A), PALB2
Hereditary Pancreatitis
CFTR, CTRC, PRSS1, PRSS2, SPINK1
Lynch Syndrome
EPCAM, MLH1, MSH2, MSH6, PMS2
Multiple Endocrine Neoplasia
CDKN1B (P27KIP1), MEN1
Pancreatic Cancer Susceptibility
BRCA1, BRCA2, PALB2, PALLD, RABL3
Other Pancreatic Cancer Genes
APC, BMPR1A (ALK3), CASR, CDK4, CPA1, NF1, VHL
Pediatric Cancers
Craniopharyngiomas
APC, SMARCA4, SUFU, TSC1
Embryonal Rhabdomyosarcomas
CARD11, CTNNB1, FGFR4, HRAS, KRAS, MDM2, MDM4, NF1, NRAS, PIK3CA (p110-alpha), RARA, TP53 (p53)
Ependymomas
MEN1, NF2
Ewing's Sarcoma
NF1, RET
Germ Cell Tumors
BRAF, CBL, FANCM, PTEN
Hepatoblastomas
CDK4, MSH6, TP53 (p53)
Hepatocellular Carcinomas
APC, CREBBP (CBP), CTNNB1, IDH1, KRAS, MET, NRAS, PIK3CA (p110-alpha), TERT, TP53 (p53)
Lynch Syndrome
EPCAM, MLH1, PMS2
Nephroblastomas
BRCA2, CDKN1C (p57Kip2), DIS3L2, PAX6, POU6F2, REST, SMARCB1, WT1
Neuroblastomas
ALK, PHOX2B, PTCH1
Osteosarcomas
ATRX, CDKN2A (P16INK4A), CHEK2 (RAD53), RB1, RECQL4, TP53 (p53), TSC2
Retinoblastomas
APC, CEBPA, MAX, RB1, STK11 (LKB1), TSC2
Rhabdomyosarcomas
BRCA1, DICER1, FOXO1, MSH2, PAX3, PAX7
Other Pediatric Cancer Genes
CDC73, PRKAR1A, VHL
Prostate Cancers
Adenocarcinomas
AR, BRIP1, CHEK2 (RAD53), NBN, PTEN, RAD51C, RAD51D, TP53 (p53)
Advanced Prostate Cancers
ATM, BRCA1, BRCA2, PALB2, PTEN
Lynch Syndrome
EPCAM, MLH1, MSH2, MSH6, PMS2
Other Prostate Cancer Genes
CDH1 (E-Cadherin), EHBP1, ELAC2, HOXB13, MSMB, RNASEL
Skin Cancers
Cutaneous Melanomas
BAP1, CDK4, CDKN2A (P16INK4A), MC1R, MITF, POT1, XRCC3
Malignant Melanoma Susceptibility
CDK4, CDKN2A (P16INK4A), MC1R, MITF, POT1, TERT, XRCC3
Malignant Melanomas
CDK4, CDKN2A (P16INK4A), MC1R, MITF, POT1, XRCC3
Melanomas
BRAF, BRCA1, BRCA2, CDK4, CDKN2A (P16INK4A), CDKN2B-AS1, CREBBP (CBP), IDH1, KIT (CD117), KRAS, MAP2K1, MAP2K2 (MEK2), MC1R, MITF, NRAS, PIK3CA (p110-alpha), POT1, PTEN, RAF1, RB1, TERT, TP53 (p53), TYR
Uveal Melanomas
BAP1, BRCA2, CDKN2A (P16INK4A), CDKN2B (p15INK4b)
Xeroderma Pigmentosum
DDB2, ERCC2 (XPD), ERCC3 (XPB), ERCC4, ERCC5, POLH, XPA, XPC
Other Skin Cancer Genes
ATR, CYLD, FH, FLCN, PRKAR1A, PTCH2