Gynecological Malignancies and Hereditary Breast Cancer

Gynecological cancers can have a hereditary basis, particularly in cases of ovarian, endometrial, and cervical cancer.

For example, the Hereditary Breast and Ovarian Cancer (HBOC) Syndrome is associated with pathogenic variants in the BRCA1 and BRCA2 genes, while Lynch Syndrome (HNPCC) is linked to mutations in DNA mismatch repair genes such as MLH1, MSH2, MSH6, PMS2, and EPCAM.

The GENOSOPHY® Genetic Testing Panel for Gynecological Malignancies analyzes 29 genes associated with the development of gynecological and breast cancers and is essential for:

• Differential diagnosis between sporadic and hereditary forms of cancer
  • Risk assessment and screening of high-risk families
  • Personalization of the therapeutic approach

Conditions Covered by the GENOSOPHY® Gynecological Cancer Panel

• Hereditary Ovarian Cancer (HBOC Syndrome – BRCA1/2)
• Endometrial Cancer (Lynch Syndrome – MLH1, MSH2, MSH6, PMS2, EPCAM)
• Li-Fraumeni Syndrome (TP53) – Increased risk for multiple cancer types
• Peutz-Jeghers Syndrome (STK11) – Ovarian and cervical cancer
• Cowden Syndrome (PTEN) – Elevated risk for breast and endometrial cancer

Clinical Benefits

Diagnosis

• Detection of pathogenic genetic variants associated with hereditary gynecological cancers
• Distinction between sporadic and inherited forms of cancer

Prognosis

• Evaluation of cancer development risk and preventive strategy
• Family risk assessment and genetic counseling

Management

• Guidance on personalized monitoring and prophylactic surgery
• Pharmacogenetic approach (e.g., PARP inhibitors for BRCA mutation carriers)

Testing Process

1. Collection of a blood or saliva sample
2. Analysis of 29 genes associated with gynecological malignancies using Next Generation Sequencing (NGS)
3. Results available in approximately 5 weeks

Interpretation and counseling of results is also available from Professors at the Medical School of the National and Kapodistrian University of Athens (EKPA) as an optional service.

Genes Included in the Test

ATM, BARD1, BLM, BRCA1*, BRCA2, BRIP1, CDH1, CHEK2*, DICER1*, EPCAM, FANCM, MAP3K1, MLH1, MRE11A, MSH2, MSH6, NBN, NF1*, PALB2, PMS2*, PTEN*, RAD50, RAD51C, RAD51D, RECQL*, SMARCA4, STK11, TP53, XRCC2

Note: In addition to sequencing all coding exons, the GENOSOPHY® test analyzes multiple variants in non-coding regions such as promoters and introns. The sensitivity for detecting single nucleotide variants (SNVs), indels, and copy number variations (CNVs) is >99%. Detection sensitivity may be slightly reduced for genes marked with an asterisk (*).