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Knowledge of genetic condition helps in early cancer detection and treatment

Irene, a 46-years-old patient has encountered at least 3 different cancer diagnosis within the span of the last 5 years, namely papillary thyroid cancer, metastatic breast cancer and melanoma in-situ (early stage of skin cancer).

The first brush with cancer

It was through a normal pre-employment medical screening that Irene came to know that her thyroid gland was enlarged and abnormal.

Her strong family history of cancer prompted doctor to advise her to go for surgery of the enlarged thyroid nodule. Subsequent laboratory tests confirmed that Irene had thyroid cancer but thankfully it was encapsulated and did not show signs of spreading. She was in remission after successfully going through the Radioactive Iodine treatment.

Rare genetic condition called Li-Fraumeni Syndrome

Even before Irene was diagnosed with thyroid cancer in 2016, her other three siblings had had cancer. Her elder sister succumbed to liver cancer in early 1991. Her younger sister was diagnosed with Stage 1 breast cancer in 2012. Her brother was diagnosed with a rare type of cancer called soft tissue sarcoma in 2014. When her nephew was diagnosed with brain cancer at the age of 13, doctors advised Irene’s brother and his sons to undertake genetic testing to find out if any inherited gene mutations that might be the root cause of the cancers in the family.

As it turned out, her brother and one of his two sons were found to have Li-Fraumeni syndrome. This meant the tumour suppressor gene known as TP53 in their bodies had mutated and could not function well. Although not everyone with a TP53 gene mutation would necessarily develop cancer, statistically the risk of those with Li-Fraumeni syndrome is much greater than others in the general population.

Her experience with genetic testing for Li-Fraumeni Syndrome

Irene was initially apprehensive and unsure if she should also undergo the genetic testing similar to her brother. However, after speaking with the team of counsellors from the Cancer Genetic Services (CGS) at the National Cancer Centre Singapore (NCCS) and further reading on the subject, Irene considered that the potential benefits of having the genetic testing would far outweigh any possible negative psychological impact should the testing outcome be unfavourable. Hence, she had her genetic testing done in 2018 by way of having her blood sample taken and sent to a laboratory in the United States of America.

As the results confirmed she also had Li-Fraumeni syndrome, the CGS counsellors took time to explain her report in great details and developed a tailored management plan to help manage and reduce her cancer risks. It involved more frequent screening to pick up cancers at its earliest, most treatable stage as possible.

Another close shave with cancer

A year later, Irene went for her routine check-up and was diagnosed with breast cancer. Further tests revealed that the cancer had spread to her spine. Irene immediately proceeded with surgery, chemotherapy, and radiotherapy.

Since then, her latest check-up has shown that her cancer markers are on a downward trend and she has been able to continue working, going about her day-to-day routine with minimal side effects.

Irene attributed the genetic testing to be instrumental in is the timely detection of her breast cancer which led to controlling the disease comprehensively and improving the quality of her life.

In fact, she also managed to discover an abnormal mole on her calf through a surveillance screening programme last year which subsequently led to a smooth surgical intervention when diagnosed with an early stage of skin cancer (melanoma in-situ).

Irene perceives her experiences with cancer relatively positively and feels empowered with the knowledge that her regular screening will help manage her cancer risks.

Hoping to spread the awareness on genetic testing

“As I look back, I’m glad that I went for the genetic testing even though I was unsure about it at first. With the help of the genetic counsellors, I have a better understanding of my hereditary cancer syndrome. Knowing what to expect and being able to plan how to proceed with treatment helped me to stay brave through the challenging moments,” said Irene.

By sharing her story, Irene hopes to raise awareness on hereditary cancer and to encourage individuals with a family history of cancer to come forward for genetic testing to determine if the cause is hereditary. She sees this knowledge as empowering and wants others to benefit from personalised treatment and management options – just like she did!