Hereditary cancer accounts for 5–10% of malignancies. In these cases, an individual inherits a mutated gene from a parent who carries the variant. The best-known syndromes include Lynch syndrome (colon cancer), hereditary breast and ovarian cancer, and Li-Fraumeni syndrome (sarcomas, etc.). Hereditary cancers typically occur at younger ages, with multiple occurrences in a family or multiple cancers in one patient.
Being aware of a hereditary predisposition can facilitate better screening and planning for family members carrying the same variant—for example, initiating mammographic surveillance earlier than usual in a patient carrying a BRCA variant.
Hereditary Cancer Examination
19 different gene panels targeting the most common types of hereditary cancer:
Breast & Ovarian Cancer
BRCA1 / BRCA2
| 26 Genes |
|---|
| 2 Genes |
|---|
Colon Cancer
| 17 Genes |
|---|
Stomach Cancer
| 14 Genes |
|---|
Prostate Cancer
| 15 Genes |
|---|
Pancreatic Cancer
| 17 Genes |
|---|
Kidney Cancer
| 13 Genes |
|---|
Skin Cancer
(XP-Associated)
Familial
melanoma
Paraganglioma / Pheochromocytoma
| 9 Genes |
|---|
| 7 Genes |
|---|
| 6 Genes |
|---|
Parathyroid Cancer
Thyroid Cancer
| 1 Gene |
|---|
| 1 Gene |
|---|
Comprehensive Hereditary Cancer Panel
| 62 Genes |
|---|
Associated syndromes include:
Ataxia-telangiectasia syndrome (ATM)
BAP1 mutation associated disease (BAP1)
Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
DICER 1 syndrome (DICER1)
Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
Fanconi anemia syndrome (FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, SLX4, ERCC4, BRCA1, BRCA2, BRIP1, PALB2, RAD51C)
Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
Hereditary diffuse gastric syndrome (CDH1)
Hereditary mixed polyposis syndrome (GREM1)
Hereditary melanoma-pancreatic cancer syndrome (CDKN2A, CDK4)
Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHD, SDHAF2, SDHC, SDHB)
Juvenile polyposis syndrome (SMAD4, BMPR1A)
Li-Fraumeni syndrome (TP53)
Li-Fraumeni syndrome 2 (CHEK2)
Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
Multiple endocrine neoplasia type 1 (MEN1)
Multiple endocrine neoplasia type 2 (RET)
MUTYH-associated polyposis syndrome (MUTYH)
Peutz-Jeghers syndrome (STK11)
Polymerase proofreading associated syndrome (POLD1, POLE)
PTEN hamartoma syndrome (PTEN)
Retinoblastoma (RB1)
Von-Hippel Lindau syndrome (VHL)
Xeroderma Pigmentosum syndrome (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC)
Tumor Profiling (FFPE)
DNA and RNA analysis for comprehensive evaluation:
Breast / Ovary / Endometrium Cancer
| 53 Genes |
|---|
AKT1,ARID1A,ATM,BARD1,BRAF,BRCA1,BRCA2,
BRIP1,CCNE1,CDH1,CDK12,CDKN2A,CHEK2,
CTNNB1,EPCAM,ERBB2,ERBB3,ESR1,FANCA,
FANCD2,FBXW7,FGFR1,FGFR2,FGFR3,KRAS,
MAGEC3,MAP2K1,MET,MLH1,MRE11,MSH2,
MSH6,MTOR,MYC,NBN,NF1,NRG1,NTRK3,
PALB2,PIK3CA,PIK3R1,PMS2,POLE,PPP2R1A,
PPP2R2A,PTEN,RAD51B,RAD51C,RAD51D,
RAD54L,RB1,STK11,TP53
Colon Cancer
| 35 Genes |
|---|
APC, ARID1A, AXIN2. BMPR1A, BRAF, CGH1, CDKN2A, CHEK2, CTNNB1, EPCAM, ERBB2, ERBB3, FBXW7, GNAS, GREM1, KRAS, MLH1, MSH2, MSH3, MSH6, MUTYH, MYC, NRAS, NTHL1, PIK3CA, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, SOX9, STK11, TCF7L2, TP53
Lung Cancer
| 53 Genes |
|---|
CDK12, CDK4, CDK6, CDKN2A, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERCC2,
FGFR1, FGFR2, FGFR3, FGFR4, HRAS, IDH1, IDH2, KDM6A, KEAP1, KIT, KRAS,
MAP2K1, MAP2K2, MET, MLH1, MSH2, MSH6, MTOR, NF1, NRAS, NTRK1, NTRK2,
NTRK3, PDGRA, PIK3CA, PMS2, PTCH1, PTEN, RAF1, RET, ROS1, STK11, TP53
Prostate Cancer
| 57 Genes |
|---|
ATR, AKT1, ARID1A, ATM, BARD1, BRAF,BRCA1,
BRCA2, BRIP1, CCNE1,CDH1, CDK12, CDKN2A, CHEK2,
CTNNB1, EPCAM, ERBB2, ERBB3, ESR1,FANCA, FANCD2,
FBXW7, FGFR1, FGFR2,FGFR3, KRAS, MAGEC3, MAP2K1,MET,
MLH1, MRE11, MSH2, MSH6, MTOR, MYC, NBN, NF1, NRG1,
NTRK1,NTRK2, NTRK3, PALB2, PIK3CA, PIK3R1, PMS2, POLE,
PPP2R1A, PPP2R2A,PTEN, RAD51B, RAD51C, RAD51D, RAD54L,
RB1, RET, STK11, TP53
Gastrointestinal Stromal Tumor (GIST)
| 39 Genes |
|---|
PC, ARID1A, BMPR1A, BRAF, CCND1, CCNE1, CDH1, CDKN2A, CTNNA1,CTNNB1, EGFR, EPCAM, ERBB2, ERBB3, FBXW7, GNAS, KIT, KMT2C, KMT2D,
KRAS, MLH1, MSH2, MSH6, MYC, NF1, NRAS, PDGFRA, PIK3CA, PMS2, PTEN, RHOA, RNF43, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TP53
Pancreatic Cancer
| 60 Genes |
|---|
ALK, APC, ARID1A, ATM, BAP1, BMPR1A, BRAF, BRCA1, BRCA2, CASR,CDH1, CDKN2A, CFTR, CHEK2, CPA1, CTNNB1, CTRC, EPCAM, ERBB2,ERBB3, ESR1, FBXW7, FGFR2, GNAS, IDH1, IDH2, KRAS, MAP2K1, MDM2,MEN1, MET, MLH1, MSH2, MSH6, MYC, NF1, NRAS, NRG1, NTRK1, NTRK2,NTRK3, PALB2, PIK3CA, PMS2, POLD1, POLE, PRSS1, PTEN, RET, RNF43,ROS1, SMAD4, SOX9, SPINK1, STK11, TCF7L2, TP53, TSC1, TSC2, VHL
Kidney Cancer
| 35 Genes |
|---|
ATM,BAP1,CDC73,CDKN1C,DICER1,DIS3L2,
EPCAM,FH,FLCN,GPC3,KDM5CMET,MLH1,
MSH2,MSH6,MTOR,NF2,PBRM1,PIK3CA,
PMS2,PTEN,REST,SDHA,SDHB,SDHC,SDHD,
SETD2,SMARCA4,SMARCB1,TFEB,TP53,TSC1,
TSC2,VHL,WT1
Bladder Cancer
| 25 Genes |
|---|
AKT1, ARID1A, ATM, BRAF, CCND1, CCNE1, CDKN1A, CDKN2A,CTNNB1,
E2F3, ERBB2, ERBB3, ERCC2, FGFR1, FGFR2, FGFR3, HRAS, KDM6A,
KRAS, MDM2, PIK3CA, PPARG, PTEN, RB1, TP53, TSC1
Melanoma
| 34 Genes |
|---|
AKT3, ARID2, BAP1, BRAF, BRCA1, BRCA2, CCND1, CDK4, CDKN2A,
CTNNB1, ERBB4, EZH2, GNA11, GNAQ , GRIN2A, HRAS, IDH1, KIT,
KRAS, MAP2K1, MC1R, MDM2, MITF, NF1, NRAS, NTRK1, NTRK2,
NTRK3, IK3CA, POT1, PPP6C, PTEN, RAC1, RB1, TERT, TP53, TYR
Glioma
| 11 Genes |
|---|
ATRX, BRAF, CTNNB1, EGFR, H3F3A, IDH1, IDH2, NF1, POLE, TERT, TP53
Homologous Recombination Deficiency, HRD
| 15 Genes |
|---|
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, FANCL, PALB2, PPP2R2A, RAD51B, RAD51C, RAD51D, RAD54L
Comprehensive RNA Fusion Panel
| 23 Genes |
|---|
FGFR2, FGFR3, MET, NTRK1, NTRK2, NTRK3, PDGFRA, PPARG, RAF1, RET, ROS1
Pan-Cancer Panel / MSI / TMB
| 680 Genes |
|---|
MYH9, MYOD1, NAB2, NBN, NCOA2, NCOA3, NCOR1, NCOR2, NEGR1, NF1, NF2, NFE2L2, NFKB2, NFKBIA, NKX2-1, NKX3-1, NLRC5, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NR3C1, NRAS, NRG1, NSD1, NT5C2, NTHL1, NTRK1, NTRK2, NTRK3, NUP93, NUTM1, P2RY8, PAK1, PAK3, PAK7, PALB2, PARK2, PARP1, PARP2, PARP3, PAX3, PAX5, PAX7, PAX8, PBRM1, PCBP1, PDCD1, PDCD1LG2, PDGFRA,PDGFRB, PDK1, PDPK1, PGR, PHF6, PHOX2B, PIAS3, PIAS4, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PIM2,PIM3, PLCG1, PLCG2, PLK2, PMAIP1, PML, PMS1, PMS2, PNRC1, POLD1, POLE, POLQ , POT1, PPARG, PPM1D, PPP2R1A, PPP2R2A, PPP4R2, PPP6C, PRAME, PRC1,PRDM1, PREX2, PRKAR1A, PRKCI, PRKDC, PRSS1, PRSS8, PSIP1, PSMA1, PSMB5, PSMD1, PSMG2, PTCH1, PTEN, PTK2, PTPN11, PTPRD, PTPRO, PTPRS, PTPRT, QKI, QSER1, RAB35, RAC1, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RANBP2, RARA, RASA1, RB1, RBM10, RECQL4, REL, REST, RET, RFWD2, RFX5, RFXAP, RHEB, RHOA, RICTOR, RIT1, RNASEL, RNF43, ROS1, RPL22,RPL5, RPS6KA4, RPS6KB1, RPS6KB2, RPTOR, RRM1, RSPO2, RUNX1, RUNX1T1,RXRA, RYBP, SDC4, SDHA, SDHAF2, SDHB, SDHC, SDHD, SERPINB3, SERPINB4,SETBP1, SETD2, SF3B1, SGK1, SH2B3, SH2D1A, SHQ1, SIN3A, SLC34A2, SLIT2,SLX4, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMARCE1, SMC1A, SMC3, SMG1, SMO, SNCAIP, SOCS1, SOS1, SOX10, SOX17, SOX2, SOX9, SPEN, SPINK1, SPOP, SPTA1, SRC, SRSF2, STAG1, STAG2, STAT1, STAT3, STAT4,STAT5A, STAT5B, STAT6, STK11, STK40, SUFU, SUZ12, SYK, TAF1, TAF3, TAP1, TAP2,TAPBP, TBL1XR1, TBX3, TCEB1, TCF12, TCF3, TCF7L2, TEK, TERC, TERT, TET1, TET2, TFE3, TFEB, TFRC, TGFBR1, TGFBR2, TIPARP, TLR4, TMEM127, TMPRSS2, TNFAIP3, TNFRSF14, TOP1, TOP2A, TP53, TP53BP1, TP63, TP73, TRAF2, TRAF3, TRAF7, TSC1, TSC2, TSHR, TYR, TYRO3, U2AF1, UGT1A1, UVRAG, VEGFA, VHL, VTCN1, WHSC1,WHSC1L1, WISP3, WRN, WT1, XBP1, XIAP, XPO1, XRCC2, YAP1, YES1, ZBTB2,ZBTB7A, ZFHX3, ZFP36L1, ZMYM2, ZMYM3, ZNF217, ZNF703, ZNF750, ZRSR2
Liquid Biopsy Pan Cancer
| 104 Genes |
|---|
AKT1, ALK, APC, AR, ARAF, ARID1A, ARID2, ASXL1, ATM, ATRX, AXIN2,AXL, B2M, BCOR, BRAF, CARD11, CCND1, CDH1, CDK4, CDK6, CDKN2A,
CIC, CREBP, CTCF, CTNNB1, EGFR, EP300, ERBB2, ERBB3, ESR1, EZH2,FBXW7, FGFR1, FGFR2, FGFR3, FLCN, FOXL2, GATA3, GLI1, GNA11, GNAQ ,GNAS, HNF1A, HRAS, IDH1, IDH2, IKZF1, JAK1, KDM5A, KIT, KRAS, MAP2K1,MAP2K2, MAPK1, MED12, MET, MLH1, MLL2, MRE11A, MSH6, MTOR, MYC,MYOD1, NCOR1, NF1, NFE2L2, NOTCH1, NRAS, NTRK1, NTRK3, PAK7, PDCD1, PDGFRA, PIK3CA, PIK3R1, POLE, PPP2R1A, PTCH1, PTEN, PTPN11, PTPRD,PTPRS, RAC1, RAF1, RB1, RET, RHEB, RHOA, RNF43, ROS1, RUNX1, SF3B1,SMAD4, SMO, SOX9, SPOP, STAT5B, STK11, TCF7L2, TP53, TSC1, U2AF1, VHL
| 18 RNA Fusions Genes |
|---|
NTRK3, PBX1, PPARG, PRKACA, RAF1, RET, ROS1, TFE3
TESTS RELATED TO TREATMENT ACCORDING TO THE TUMOR PROFILE
The examination of genes in the tumor profile related to treatment focuses on genes that are often involved in various types of cancer.
EGFR / KRAS + NRAS / PIK3CA + AKT1 / BRAF / IDH1 + IDH2
Molecular Cytogenetic Analysis (FISH)
NEUROBLASTOMA
Detection of chromosome 1 deletion, del(1p36)
Detection of chromosome 11 deletion, del(11q22.3), ATM gene
Detection of amplification of the long arm of chromosome 17 (17q gain)
Detection of amplification of the oncogene NMYC (amplification 2p24)
SARCOMAS
Detection of EWSR1 gene rearrangement (22q12) (Ewing sarcoma)
Detection of SS18 gene rearrangement (18q11.2), t(X;18)(p11.2;q11.2) (Synovial sarcoma)
Detection of FOXO1 (FKHR) gene rearrangement (13q14) (Alveolar rhabdomyosarcoma)
OLIGODENDROGLIOMA
Detection of chromosome 1 deletion, del(1p36)
Detection of chromosome 19 deletion, del(19q13)
Detection of chromosome 10 deletion, PTEN gene, del(10q23)
BREAST CANCER
Detection of amplification or deletion of the TOP2A and HER2 genes
C. Molecular Genetic Analysis:
SARCOMAS
Detection of translocation t(11;22)(q24;q12), fusion gene EWS/FLI (Ewing sarcoma)
Detection of translocation t(21;22)(q22;q12), fusion gene EWS-ERG (Ewing sarcoma)
Detection of translocation t(11;22)(p13;q12), fusion gene EWS-WT1
Detection of translocation t(X;18)(p11;q11), fusion gene SYT-SS18 (Synovial sarcoma)
Detection of translocation t(2;13)(q35;q14), fusion gene PAX3-FKHR (FOXO1) (Alveolar rhabdomyosarcoma)
Detection of translocation t(1;13)(p36;q14), fusion gene PAX7-FKHR (FOXO1) (Alveolar rhabdomyosarcoma)