Hereditary Pancreatic Cancer

Hereditary pancreatic cancer is a genetically heterogeneous disease, with approximately 10% of cases linked to inherited mutations in genes involved in DNA repair and cell growth regulation.

Pathogenic variants in genes such as BRCA1, BRCA2, ATM, PALB2, and CDKN2A are associated with familial pancreatic cancer. In addition, genetic syndromes such as HBOC, Lynch, Peutz-Jeghers, and Ataxia-Telangiectasia are also known to increase the risk of pancreatic cancer.

The GENOSOPHY® Hereditary Pancreatic Cancer Panel includes the analysis of 24 genes related to an increased risk of pancreatic malignancy.

Conditions Covered by the GENOSOPHY® Test

• Familial Pancreatic Cancer (BRCA1, BRCA2, PALB2, ATM, CDKN2A)
• Hereditary cancer syndromes associated with pancreatic cancer (Lynch, Peutz-Jeghers, HBOC, FAP)
• Ataxia-Telangiectasia Syndrome (ATM gene-related)

Clinical Benefits

Diagnosis

• Identification of pathogenic genetic variants associated with increased hereditary pancreatic cancer risk
• Differential diagnosis between sporadic and hereditary forms of pancreatic cancer, enabling personalized care

Prognosis

• Individual and family risk estimation, supporting the development of personalized surveillance plans
• Family testing and cascade screening for early prevention

Management

• Personalized monitoring protocols for high-risk individuals
• Intensified screening (e.g., routine imaging surveillance)
• Pharmacogenetic guidance—especially for BRCA mutation carriers, who may benefit from targeted therapies (e.g., PARP inhibitors)

Testing Procedure

1. Sample collection (blood or saliva)
2. Next-Generation Sequencing (NGS) of 24 genes related to hereditary pancreatic cancer
3. Results available within approximately 5 weeks

Genetic counseling and results interpretation by Professors of the National and Kapodistrian University of Athens (EKPA) are available as an additional service.

Genes Included in the Panel

APC, ATM, BMPR1A*, BRCA1*, BRCA2, BUB1B, CDKN2A, EPCAM, FANCC, FANCG, MEN1, MLH1, MSH2, MSH6, NF1*, PALB2, PMS2*, SMAD4, STK11, TSC1, TSC2, TP53, VHL

Note: In addition to full exon sequencing, the GENOSOPHY® test analyzes multiple non-coding variants (e.g., promoter and intronic regions) that may be clinically actionable.
The detection sensitivity for single nucleotide variants (SNVs), indels, and copy number variations (CNVs) is >99%. Slightly reduced sensitivity may apply to genes marked with an asterisk (*).