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פאנלים

Hereditary cancer

GC_28

Last update: 19.01.2026

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.
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]

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