Hereditary Cancers

Hereditary cancer syndromes account for 5–10% of all cancer cases, primarily affecting the gastrointestinal, endocrine, and neuroendocrine systems, as well as organs such as the pancreas, kidneys, liver, skin, and eyes.

The GENOSOPHY® Comprehensive Hereditary Cancer Panel analyzes 162 genes, offering advanced genetic investigation for a wide range of inherited cancer syndromes.

Conditions Covered by the Genetic Test

The panel includes disorders such as:

• Hereditary Colorectal Cancer & Lynch Syndrome
• Hereditary Breast and Ovarian Cancer (HBOC Syndrome)
• Familial Pancreatic Cancer (BRCA2, CDKN2A, PALB2)
• Hereditary Prostate Cancer (BRCA2, HOXB13)
• Li-Fraumeni Syndrome (TP53)
• Peutz-Jeghers Syndrome (STK11)
• Von Hippel–Lindau Syndrome (VHL)

Clinical Benefits

Diagnosis

• Identification of pathogenic variants linked to increased cancer risk
• Differentiation between sporadic and hereditary cancer forms

Prognosis

• Assessment of personal and familial cancer risk
• Guidance for preventive monitoring and therapeutic strategies

Management

• Personalized recommendations for monitoring and prevention
• Decision-making on enhanced surveillance or prophylactic surgery
• Therapeutic planning (e.g. PARP inhibitors for BRCA carriers)

Testing Procedure

1. Sample collection (blood or saliva)
2. Analysis of 162 genes associated with hereditary cancer syndromes using Next-Generation Sequencing (NGS)
3. Results available in 5–6 weeks

Additional genetic counseling and result interpretation is available by Professors of the National and Kapodistrian University of Athens (EKPA) as a separate service.

Genes Included in the Panel

AIP, ALK, ANKRD26, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A*, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CBL, CD70, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2*, CPA1, CTNNA1, CYLD, DDB2, DDX41, DICER1*, DIS3L2*, DKC1, EFL1*, EGFR, ELANE, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXO1, EZH2, FAM111B*, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GPR101, GREM1, HAVCR2, HNF1A, HOXB13, HRAS, IKZF1, KIT, KITLG, KRAS*, LZTR1, MAP2K1, MAP2K2, MAP3K1, MAX, MEN1, MET, MITF, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1*, NF2, NRAS, NSD1, NSUN2, NTHL1, PALB2, PAX5, PDGFRA#, PHOX2B, PMS1, PMS2*, POLD1, POLE, POLH*, POT1, PPM1D, PRF1, PRKAR1A, PTCH1, PTEN*, PTPN11, RAD50, RAD51C, RAD51D, RAF1, RASA2, RB1, RECQL*, RECQL4, REST, RET, RHBDF2, RIT1, RRAS, RUNX1, SAMD9, SAMD9L, SBDS*, SDHA*, SDHAF2, SDHB, SDHC, SDHD*, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPRED1, SRP72*, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TRIP13, TSC1, TSC2, VHL, WRN*, WT1, XPA, XPC, XRCC2

Note: In addition to all exons, the GENOSOPHY® test analyzes non-coding variants (e.g. promoters and introns) that may provide clinically useful information.
The detection sensitivity for SNVs, indels, and CNVs is >99%, with slightly lower sensitivity for genes marked with an asterisk (*).