Hong Kong Genome Institute 香港基因組中心

Love is the most powerful force in life. As she gazed at her children, Wing-sze (a pseudonym) was determined to defeat cancer for their sake, bravely embracing the necessary choices for their future, even if it meant she might never give birth again. A happy mother of two young children approaching her 40, she never expected that breast cancer would come uninvited during the prime of her life, forever altering her life. Wing-sze found the resilience to face the challenge head-on for her children. She joined the Hong Kong Genome Project (HKGP) and benefitted from whole genome sequencing (WGS) to identify disease-causing genetic variations. Upon learning that she was at risk of other cancers, she made the difficult but necessary decision to undergo surgery, removing her fallopian tubes and ovaries. This proactive measure allowed her to avoid future cancer risks and regain control of her health. 

At the same time, WGS provided Wing-sze with valuable insights into the hereditary risks associated with her cancer, and she is now doing everything she can to protect her children from the threat she faces head-on. 

With no family history of cancer, Wing-sze never imagined she would face such a serious threat to her health. At age 39, cancer came knocking, throwing her life into turmoil. She was diagnosed with Invasive Ductal Carcinoma, an aggressive type of breast cancer in which cancer cells penetrate from the milk ducts into surrounding fatty tissue. It required prompt treatment to prevent the cancer spreading through her lymphatic system and blood vessels. 

 

Understanding Unveils Precise Prevention and Treatment 

The diagnosis came as a shock, but Wing-sze quickly found her footing and resolve. She decided to stay strong for her family, determined to witness her children’s growth and to be there for their milestones. Alongside actively pursuing treatment, Wing-sze delved into her condition and its hereditary risks, hoping that this knowledge might help her children take preventive measures early on for a healthy future. 

In 2022, just a year after being diagnosed with breast cancer, Wing-sze joined HKGP upon her attending doctor’s referral. Through WGS and subsequent analysis, the HKGP team pinpointed a disease-causing genetic mutation related to breast cancer in her RAD51C gene. The result precisely explained the cause of her illness, allowing healthcare professionals to better understand her condition and develop a personalised treatment and management plan, including regular disease monitoring. The analysis also revealed her risk of ovarian cancer. Facing this potential threat, Wing-sze made the bold decision to follow the recommendation and undergo a salpingo-oophorectomy, a preventive surgery that removed her fallopian tubes and ovaries. 

 

Stepping Beyond the Unknown and Regaining Control of Health 

As the WGS results showed the hereditary nature of the genetic mutation, the HKGP team advised Wing-sze’s daughter to take genetic testing once she reaches adulthood for early detection and prevention. They also recommended her son receive genetic counselling in the future to understand the hereditary risks and make informed family planning decisions. 

A mother’s strength knows no bounds. Despite facing the changes and impacts of cancer, this young mother fearlessly confronted the disease for the sake of her children and family. Through WGS, she regained control over her health and helped her family to understand their own health risks, allowing for more precise and effective disease prevention and management. With her positive attitude and courageous determination, Wing-sze has transformed her life story, ensuring her family can continue to live with love and happiness. 

 

Learn About Invasive Ductal Carcinoma 

Disease Incidence 

Breast cancer has been the most common cancer among women in Hong Kong since 1994. It is estimated that one in every 13 women will face this disease in their lifetime, with Invasive Ductal Carcinoma (IDC) being the most common type, accounting for approximately 80% of all breast cancer cases. Early-stage breast cancer may develop without symptoms, and some patients are unaware of any changes in their breasts until a screening reveals the presence of cancer. 

Research indicates that about 5-10% of breast cancer cases may be hereditary. Women with breast cancer gene mutations are 10 times more likely to develop breast cancer than the general population. As a result, understanding the hereditary risks of breast cancer and getting regular breast screenings can help in the early detection of hereditary breast cancer and increase the chances of a successful treatment. 

Symptoms 

Current breast cancer treatments include surgery, radiotherapy, chemotherapy, hormone therapy, and immunotherapy. Patients with early-stage IDC typically undergo breast-conserving surgery, followed by radiation therapy or surgical removal of the entire breast. These treatments are effective, although some patients may require post-operative adjuvant chemotherapy or hormone therapy to prevent recurrence.