GC_28 Hereditary Cancer
Hereditary cancer syndromes are caused by inherited pathogenic variants that increase the lifetime risk of developing specific cancers. They may present with early-onset malignancies, multiple primary tumors, characteristic tumor types, unusual combinations of cancers, or a strong family history of cancer.
This panel includes genes associated with a broad spectrum of hereditary cancer predisposition syndromes, including hereditary breast and ovarian cancer, Lynch syndrome, polyposis syndromes, hereditary endocrine tumor syndromes, Li-Fraumeni syndrome, hereditary renal cancer syndromes, hereditary melanoma, and other solid and hematologic cancer predisposition disorders.
This panel is recommended for individuals with early-onset cancer, multiple primary tumors, a strong family history of cancer, tumor characteristics suggestive of an inherited predisposition, or other clinical features raising suspicion for a hereditary cancer syndrome. It is particularly appropriate when more than one hereditary cancer syndrome is being considered or the underlying genetic diagnosis is unclear.
Last update: 19.01.2026
ABRAXAS1, ACD, ACVRL1, AIP, AKT1, ALK, ANKRD26, APC, ATM, ATRIP, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1, BUB1B, CBL, CD70, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CTR9, CYLD, DDB2, DDX41, DGCR8, DICER1, DIS3L2, DKC1, EFL1, EGFR, ELANE, ELP1, ENG, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ETV6, EXO1, EXT1, EXT2, EZH2, FAM111B, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBXW7, FH, FLCN, GALNT12, GATA2, GPC3, GPR101, GPR161, GREM1, H19, HAVCR2, HNF1A, HNF1B, HOXB13, HRAS, IGF2, IKZF1, ITK, KCNQ1OT1, KDM3B, KIT, KITLG, KLLN, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MBD4, MC1R, MCM8, MCM9, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MTAP, MUTYH, NBN, NF1, NF2, NFIX, NHP2, NOP10, NOTCH3, NRAS, NSD1, NSUN2, NTHL1, NYNRIN, PALB2, PARN, PAX5, PAX6, PDGFRA, PDGFRB, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POLH, POT1, PPM1D, PPP1CB, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, PTPN11, PTPRJ, RABL3, RAD50, RAD51C, RAD51D, RAF1, RB1, RECQL, RECQL4, REST, RET, RHBDF2, RIT1, RNF43, RPS20, RRAS, RTEL1, RUNX1, SAMD9L, SBDS, SCG5 , SDHA, SDHAF2, SDHB, SDHC, SDHD, SEMA4A, SH2B3, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPRED1, SPRTN, SQSTM1, SRP72, STK11, SUFU, TBXT, TERC, TERT, TGFBR1, TGFBR2, TINF2, TMEM127, TNFRSF11A, TP53, TRIM28, TRIM37, TRIP13, TSC1, TSC2, VHL, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3
ClinVar P/LP variants (IDs) not covered: APC:[3882279]; [3127709]; [3127710] | ATM:[4169743]; [3802353]; [3325980]; [2121591]; [3802702] | BRCA1:[3893012]; [267741]; [1383644] | BRCA2:[3780838] | CHEK2:[2035246] | DICER1:[3840007] | ETV6:[4020046] | MSH2:[2453487] | NF1:[242478]; [3404745] | NF2:[3404989] | POT1:[3226648] | PTEN:[2587202] | RAD51C:[3228945]; [2625143] | RB1:[4544282] | SMAD4:[3445838] | VHL:[997768]
GC_74 Pediatric Hereditary Cancer
Pediatric hereditary cancer syndromes are inherited disorders that predispose to malignancies during childhood or adolescence. They may also be associated with developmental abnormalities, congenital anomalies, characteristic physical findings, or increased risks for multiple tumor types. Early recognition may influence surveillance, treatment, and family counseling.
This panel includes genes associated with the major hereditary childhood cancer predisposition syndromes, including Li-Fraumeni syndrome, hereditary retinoblastoma, DICER1 tumor predisposition syndrome, neurofibromatosis-associated tumor predisposition, Wilms tumor predisposition, rhabdoid tumor predisposition, and other genetic disorders associated with pediatric malignancy.
This panel is recommended for children or adolescents with cancer at an unusually young age, multiple or bilateral tumors, characteristic tumor types, congenital or developmental abnormalities associated with cancer predisposition, or a personal or family history suggestive of an inherited pediatric cancer syndrome.
Last update: 19.01.2026
ABRAXAS1, ACD, ACVRL1, AIP, AKT1, ALK, ANKRD26, APC, ATM, ATRIP, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRIP1, BUB1, BUB1B, CBL, CD70, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CTR9, CYLD, DDB2, DDX41, DGCR8, DICER1, DIS3L2, DKC1, EFL1, EGFR, ELANE, ELP1, ENG, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6L2, ETV6, EXO1, EXT1, EXT2, EZH2, FAM111B, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBXW7, FH, FLCN, GALNT12, GATA2, GPC3, GPR101, GPR161, GREM1, H19, HAVCR2, HNF1A, HNF1B, HOXB13, HRAS, IGF2, IKZF1, ITK, KCNQ1OT1, KDM3B, KIT, KITLG, KLLN, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MBD4, MC1R, MCM8, MCM9, MEN1, MET, MITF, MLH3, MSH3, MTAP, NBN, NF1, NF2, NFIX, NHP2, NOP10, NOTCH3, NRAS, NSD1, NSUN2, NTHL1, NYNRIN, PALB2, PARN, PAX5, PAX6, PDGFRA, PDGFRB, PHOX2B, PIK3CA, POLD1, POLE, POLH, POT1, PPM1D, PPP1CB, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, PTPN11, PTPRJ, RABL3, RAD50, RAD51C, RAD51D, RAF1, RB1, RECQL, RECQL4, REST, RET, RHBDF2, RIT1, RNF43, RPS20, RRAS, RTEL1, RUNX1, SAMD9L, SBDS, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SEMA4A, SH2B3, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPRED1, SPRTN, SQSTM1, SRP72, STK11, SUFU, TBXT, TERC, TERT, TGFBR1, TGFBR2, TINF2, TMEM127, TNFRSF11A, TP53, TRIM28, TRIM37, TRIP13, TSC1, TSC2, VHL, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3
ClinVar P/LP variants (IDs) not covered: APC:[3882279]; [3127709]; [3127710] | ATM:[4169743]; [3802353]; [3325980]; [2121591]; [3802702] | CHEK2:[2035246] | DICER1:[3840007] | ETV6:[4020046] | NF1:[242478]; [3404745] | NF2:[3404989] | POT1:[3226648] | PTEN:[2587202] | RAD51C:[3228945]; [2625143] | RB1:[4544282] |
SMAD4:[3445838] | VHL:[997768]
GC_89 Wilms Tumor
Last update: 04.01.2026
CDC73, CDKN1C, CTR9, DIS3L2, GPC3, REST, TRIM28, WT1