Authors: Ilieș Roxana-Flavia1, Cătană Andreea1, Gabriela Bolba Morar2, Orodan Andrada1
1Department of Medical Genetics, Iuliu Hațieganu University of Medicine and Pharmacy
2Department of Senology, the Oncology Institute “Prof Dr Ion Chiricuta”, Cluj-Napoca, Romania.
While hereditary breast cancer only makes up 5% to 10% of all cases, female patients with pathogenic mutations such as BRCA1, BRCA2, CHEK2 etc., are at a higher risk of developing it. Positive family history (such as multiple family members affected with this and other forms of cancer) prompts a more rigorous approach towards the screening and early diagnosis of these patients, as well as a need for counselling for family members.
A 33-year-old female patient is diagnosed with Invasive Ductal Carcinoma NST (No Specific Type) in the left breast, confirmed by biopsy and MRI. Family history reveales early-onset pancreatic cancer (under 65 years old) and is considered as positive, suggesting genetic counseling. We performed the Cancer Risk Test: the patient’s results were positive for two genes – BRCA2, which is associated with risk of breast and pancreatic cancer, and CHEK2, associated with risk of breast and colon cancer.
Due to the autosomal dominant inheritance model of these genes, the patient’s successors have a 50% chance of developing breast cancer. This high risk indicates early start of screening (through mammography, breast MRI, liquid biopsy) or even preventive surgery (such as postmenopausal removal of ovaries or breasts) in order to prevent or diagnose these patients in a timely manner.
Keywords: breast cancer, BRCA, genetic panel, screening