Catching that faulty gene early

This story was first published in The Straits Times on May 30, 2013

At least one woman here has had both her breasts and ovaries removed - when she was cancer-free.

The executive, who wanted to be known only as Madam A, underwent such surgery to prevent cancer in these organs three years ago, when she was only 35 years old.

She had been found to have a strong family history of cancer and a faulty BRCA 1 gene - which raised her risk of breast cancer and ovarian cancer.


Her situation is similar to that of American actress Angelina Jolie, who also had both her breasts removed in February to prevent breast cancer after she found out about her BRCA 1 gene mutation.

Madam A is among an estimated 20 per cent of patients here who opt for preventive surgery after testing positive for gene mutations which put them at higher risk of cancer.

The majority of such patients choose to undergo close surveillance for cancer, so that if it occurs, it can be detected and treated early, and the chances of survival are better.

Since the discovery of the BRCA genes and their links to both hereditary and non-hereditary breast cancer about 20years ago, preventive surgery has become an option for those who test positive for the gene mutation.

BRCA genes have multiple functions, including maintaining stability when cells divide and repairing damaged DNA. When these genes mutate and DNA damage is not repaired, the risk of cancer increases.

Increasing awareness of such gene mutations and screening tests and genetic counselling of those at higher risk of hereditary cancer has led to more people seeking screening at the two cancer genetics clinics here.

The Cancer Genetics Service, which was started at the National Cancer Centre Singapore (NCCS) about 10 years ago, now evaluates about 100 to 120 people a year.

"This is increasing rapidly each year," said Dr Tan Min-Han, a consultant medical oncologist at the service.

He estimates the rate of increase to be around 20 per cent a year for the last few years.

Dr Lee Soo Chin, a senior consultant oncologist at the National University Cancer Institute, Singapore (NCIS), also noted a similar increase over the last two years at the institute's cancer genetics clinic.

The clinic, which started in 2001, currently sees 60 to 80 new patients a year for genetic risk evaluation.

At NCCS and NCIS, most patients who come for genetic counselling and tests - up to 70 per cent - are women checking if they have mutated BRCA genes.

The other commonly tested cancer gene is for hereditary colorectal cancer.

These are the two types of hereditary cancer with the most well-documented screening and disease prevention measures, Dr Lee said.


The likelihood of identifying a mutation depends on the patient's family history.

Doctors offer genetic testing only if the estimated risk of finding a mutation is at least 10 per cent.

Dr Lee said: "Some high-risk families that we see may have an estimated risk of more than 80 per cent of carrying a mutation (based on strong family history) and we strongly recommend these patients to consider genetic testing."

The criteria for referral to the cancer genetics clinic include getting cancer at a young age - typically younger than the ages of 35 to 40 - and having a rare type of cancer, such as male breast cancer.

Other red flags include having multiple family members with similar types of cancer and a family history of certain combinations of cancer, such as breast cancer and ovarian cancer, or colon cancer and womb cancer.

Screening for BRCA gene mutations in the general population is impractical, partly because of the low prevalence in the general population, estimated at less than 5 per cent of all breast cancer cases, doctors said.

It is also not cost-effective because of the size and complexity of the BRCA genes.

With the exception of some genetically isolated populations, BRCA mutations have been shown to occur across the entire lengths of the genes.

So to find any mutations, the full lengths have to be analysed, which is expensive. Testing for mutations in both BRCA 1 and 2 genes can cost between $1,500 and $2,500.

After a BRCA gene mutation has been found in a person with breast and/or ovarian cancer, doctors will know exactly where in the BRCA gene the mutation occurred. They can then just check for the same genetic mutation in the patient's relatives, so the test will be cheaper.

Other than cost, patients may also be concerned about insurance implications, doctors said.

Dr Peter Ang, a consultant oncologist whose practice is at the Gleneagles Medical Centre, said: "Even when we counsel them, we also talk about how it may impact their medical insurance which may not cover genetic conditions."


The million-dollar question: If a person has a mutation of the BRCA genes, what preventive steps should she take?

Removing both breasts and both ovaries prophylactically can reduce the risks of breast cancer and ovarian cancer significantly.

For instance, a 35-year-old woman with the BRCA 1 gene mutation, who did not have any preventive surgery but is closely monitored, has an estimated risk of breast cancer of 49 per cent and that of ovarian cancer of 32 per cent by the age of 70, Dr Tan said.

If she has both breasts and both ovaries removed by the age of 40, the figures fall to 10 per cent and 7 per cent respectively.

A normal woman without BRCA gene mutations or a family history of breast cancer has about 5 per cent chance of breast cancer and 1 per cent risk of ovarian cancer.

The benefits of preventive surgery can vary according to its timing, but often, it is reasonable to defer the complete removal of ovaries until the woman has completed her family, Dr Tan said.

Mastectomy (breast removal surgery) and oophorectomy (ovary removal surgery) come with some risks too but they are minimal, said Dr Esther Chuwa, a breast surgeon at Gleneagles Hospital.

They include 1 to 2 per cent risk of wound infection if the patients have other risk factors such as diabetes, the habit of smoking or obesity, and less than 1 per cent risk of complications from undergoing general anaesthesia.

However, surgery does not come cheap.

In private hospitals, a mastectomy without breast reconstruction costs $10,000 to $16,000 for one side and twice this amount for both sides, said Dr Chuwa. The cost of mastectomy, reconstruction of both breasts and hospitalisation starts from $50,000.

An oophorectomy costs upwards of $3,000.


But for Madam A, who had her surgery at a private hospital, ensuring that she remains healthy as long as possible and reducing her risk of cancer as much as possible was more important than the costs.

She said the "worst time of her life" was finding out about her mother's breast cancer diagnosis and watching her battle the disease.

When she died at the age of 61, after fighting the cancer for six years, her mother's oncologist, Dr Ang, asked her and her brother to get genetic counselling.

They were deemed to be at high risk of having the same genetic mutation as their mother, because of her strong family history of cancer. Four of her seven siblings also had cancer. Two sisters had breast cancer, one of whom also had ovarian cancer. Two brothers had other forms of cancer.

Madam A said: "You could say it was fortunate that my mother and her sisters were treated by the same oncologist, who then called my brother and me in for counselling."

She and her brother agreed to be tested for the gene mutation. She tested positive for the BRCA 1 gene mutation in 2006. She was half-expecting it and it confirmed her worst fears. She declined to reveal her brother's test results.

"With the gene mutation, I had about an 85 per cent probability of getting breast cancer and about 50 per cent risk of getting ovarian cancer," she said.

At the time, she was 32 years old and her first child was just a year old. She wanted one more child.

Dr Ang told her that in that case, she should complete her family before thinking about preventive surgery.

"In his mind and in my mind, I needed to remove both my breasts and ovaries," she said.

Dr Ang recommended that in the meantime, she should have an annual magnetic resonance imaging (MRI) scan and six-monthly ultrasound scans on her breasts and ovaries by her gynaecologist.

In 2008, she had her second child.

After she finished breastfeeding the baby in 2009, she discussed with Dr Ang the bodily changes, lifestyle impact and pitfalls of surgically removing her breasts and ovaries.

In 2010, she had both her breasts and ovaries removed, and her breasts reconstructed - all in an 11-hour operation.

She drew strength to go through with her operation from her mother, recalling how bravely her mother had fought to stay alive no matter how dire the situation was.

"The strength of a mother knows no bounds when it comes to her children," she said.

"To me, it was not an option. Removing my breasts and ovaries was something that just had to be done. I still stand by my decision. It was the best decision I could have made given the circumstances."

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This story was first published in The Straits Times on May 30, 2013

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