Hereditary Breast Cancer (BRCA1 & BRCA2)

Inherited mutations in the BRCA1 and BRCA2 genes significantly increase the lifetime risk of developing breast cancer (40–80%), ovarian cancer (11–40%), and other malignancies.

The GENOSOPHY® Hereditary Breast Cancer Genetic Panel includes sequencing of 9 genes associated with elevated risk for these cancers.

Conditions Covered by the Genetic Test

• Hereditary Breast and Ovarian Cancer (HBOC Syndrome – BRCA1/2)
• Pancreatic and Prostate Cancer (associated with BRCA2 and PALB2)
• Li-Fraumeni Syndrome (TP53) – Linked to breast cancer and various other tumors
• Cowden Syndrome (PTEN) – Increased risk for breast and endometrial cancer
• Peutz-Jeghers Syndrome (STK11) – Increased risk for breast and ovarian cancer

Clinical Benefits

Diagnosis

• Detection of pathogenic genetic variants associated with breast and ovarian cancer
• Differentiation between sporadic and hereditary cancer cases

Prognosis

• Accurate risk assessment for cancer development and proactive strategy planning
• Family-based genetic counseling and risk evaluation

Management

• Personalized surveillance and guidance on prophylactic surgery
• Pharmacogenetic approach, e.g., PARP inhibitor therapy for BRCA mutation carriers

Testing Procedure

1. Sample collection (blood or saliva)
2. Next-Generation Sequencing (NGS) of 9 genes linked to hereditary breast cancer
3. Results available within approximately 5 weeks

Genetic counseling and results interpretation by Professors of the National and Kapodistrian University of Athens (EKPA) is offered as a separate service.

Genes Included in the Panel

BRCA1*, BRCA2, CDH1, MAP3K1, PALB2, PTEN*, RECQL*, STK11, TP53

Note: In addition to full exon sequencing, the GENOSOPHY® test also analyzes non-coding regions such as promoters and introns, which may contain clinically relevant variants.
The detection sensitivity for SNVs, indels, and CNVs is >99%. Slightly reduced sensitivity may apply to genes marked with an asterisk (*).