KARACHI: A study published in the journal BMC, Hereditary Cancer in Clinical Practice, discovered a significant incidence of hereditary breast cancer (HBC) in Pakistan.

Patients who attended the HBC clinics at AKU for three years and underwent multi-gene panel testing were the subjects of a study conducted by researchers from Aga Khan University, Karachi, and collaborating hospitals.

Twenty-two per cent of the patients who satisfied the requirements for genetic testing got positive test results. This is comparable to other nations' statistics, ranging from 9.4 to 29.8 per cent. This indicates that nearly one-fourth of all individuals sent for genetic testing have HBC.

Hereditary breast cancer in Pakistan

Most breast cancers are sporadic, meaning they do not have a recognised hereditary or preventive aetiology. Therefore, there is no danger of cancer transmission to children in the vast majority of situations.

HBC or hereditary breast cancer is less prevalent but accounts for 10-30% of breast cancers. People possess breast cancer genes that prevent them from developing the disease. When these breast cancer genes become aberrant or mutated, an individual is prone to develop breast cancer. These hereditary breast cancers can be transmitted from a mother or father to their offspring.

The study revealed that patients diagnosed with breast cancer at a younger age were more prone to have HBC in contrast to older women and that 25 per cent had no family history but had other risk factors that warranted genetic testing, highlighting the fact that it is sometimes advisable to undergo testing even in the absence of family history.

Dr Salman Kirmani, Consultant Medical Geneticist, Chair of the Division of Women and Child Health at AKU, and the study's senior author, conveyed a clear message to the public: "Knowing that you have a genetic predisposition to breast or cancers related to breast can significantly improve long-term outcomes for patients and their families, as well as provide opportunities to prevent the disease from being passed on to future generations."