Germline Panel – Gynaecological Cancer

Test Code
SLS161012

What is the Germline Panel - Gynaecological Cancer?

Gynecological cancers, including ovarian, endometrial, cervical, and fallopian tube cancers, can have a hereditary basis, with approximately 10-20% of ovarian cancers and 2-5% of endometrial cancers linked to inherited gene mutations. This genetic test evaluates key genes involved in DNA repair, tumor suppression, and cell cycle regulation that influence the risk of hereditary gynecological cancers.

The Germline Panel – Gynaecological Cancer includes genes associated with Hereditary Breast and Ovarian Cancer (HBOC) syndrome, such as BRCA1 and BRCA2, which significantly increase the risk of ovarian cancer. It also assesses genes linked to Lynch syndrome the most common inherited cause of endometrial cancer, along with PTEN (Cowden syndrome) and STK11 (Peutz-Jeghers syndrome), both of which are associated with a heightened risk of multiple gynecological malignancies.

Genes Covered/No of Genes: BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, STK11, TP53

Indications for Testing

  • Women diagnosed with ovarian, endometrial, or cervical cancer, particularly at a young age.
  • Individuals with a family history of hereditary cancer syndromes (HBOC, Lynch syndrome, Peutz-Jeghers syndrome).
  • Patients considering PARP inhibitors or immunotherapy for mismatch repair-deficient tumors.

Inheritance Pattern

Gynecological cancer-related genes generally follow an autosomal dominant inheritance pattern, with a 50% chance of passing the mutation to offspring.

Why is This Test Important?

Genetic testing allows for personalized cancer risk management, including preventive surgeries, enhanced screening, and targeted treatments, significantly improving patient outcomes.

Breast Cancer, Ovarian Cancer, Fallopian Tube Cancer, Cervical Cancer, Skin Cancer

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