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Genetic testing to secure a better future for your family

While most expectant mothers would excitedly prepare for the arrival of a baby, it was not so for Michelle who was diagnosed with breast cancer during her pregnancy.

Battling Cancer While Pregnant

Surgery was not an option as it meant risking her pregnancy. Michelle also initially declined chemotherapy as she was afraid of harming her unborn child, however she eventually proceeded with the treatment after learning about new cancer therapies such as light chemotherapy where a lower dose of chemotherapy can reduce the side effects of conventional chemotherapy.

Michelle still experienced common chemotherapy side effects such as hair loss, but bravely soldiered on and continued to work. She was thankful when she gave birth to a healthy baby girl, but the financial challenge of supporting a newborn and paying for cancer treatment proved to be very stressful. “We were prepared financially for the baby, but the unexpected cancer diagnosis was very tough ,” said Michelle.

Understanding why cancer happened

Michelle was just 29 when she was diagnosed with breast cancer and she had a strong family history of cancer. Her mother had passed on from breast cancer when she was just 14 years old. Her maternal grandmother also succumbed to breast cancer just 2 years before Michelle was . Breast cancer seemed to run in her family.

Michelle was referred to the Cancer Genetics Service (CGS) at the NCCS to find out more. “I went for genetic counselling to find out what could be done to prevent cancer from happening again. I was also afraid that my daughter may be affected by our family history of cancer,” explained Michelle.

The genetic tests revealed that Michelle has a BRCA2 faulty gene, which meant she was a BRCA2 carrier that is associated with a condition called Hereditary Breast and Ovarian Cancer syndrome. This result explained why she and several members of her family members had developed breast cancer.

At first, Michelle found it hard to accept that there was an inherited risk of cancer in her family, but she later realised that there were steps she could take to reduce the risk for her daughter and herself. Her test results helped to direct personalised options to manage and reduce the cancer risk. With the advice and support from CGS, Michelle decided to undergo prophylactic (risk-reducing) surgery to reduce the risk of developing breast cancer again.

The uses and benefits of genetic counselling and testing

“Cancer is not easy to deal with. However, with the knowledge that you have hereditary cancer arising from a genetic condition, you can learn how to deal with it by screening or surgery. Your genetic test result can also guide other family members who may need testing to determine their cancer risk.,” said Michelle.

Genetic testing can be beneficial to identify which family members may have inherited the same condition and be at increased risk for cancer. For family members who have inherited it, a personalised and tailored management approach can help manage or reduce cancer risk. As her daughter has a 50% risk to have inherited the same condition, both Michelle and her husband plan to advise their daughter about the condition when she is older. Michelle believes that having the knowledge of the hereditary condition will not make her daughter fearful, but empower her to manage, reduce or even prevent her risk of getting cancer.

For those considering genetic testing, Michelle’s advice is “if you don’t do it for yourself, do it for the people you love”. She values the importance and benefit of knowing there is an inherited risk of cancer in the family, which can help identify family members who may benefit from early screening or interventions to reduce or prevent cancer risks.