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Genetic testing and early detection of breast cancer risk

BREAST cancer affects millions globally, making it one of the most pressing health concerns for women today.

Many people do not take this condition  seriously until obvious symptoms appear.

However, Sunway Medical Centre Velocity (SMCV) consultant general, endocrine and breast surgeon, Dr Tan Yee Ling, said that early detection and regular examination play a crucial role in combating breast cancer.

Dr Tan Yee Ling, Consultant General, Endocrine and Breast Surgeon from Sunway Medical Centre Velocity (SMCV). - File pic credit (News Straits Times)

BREAST CANCER PREVALENCE

"Breast cancer remains the most common cancer among Malaysian women, followed by colorectal cancer and ovarian cancer, with percentages at approximately 32 per cent, 11.9 per cent, and 7.2 per cent, respectively. According to a recent review article, 13.6 per cent of breast cancer diagnoses occur in women under the age of 40.

"Currently, stage two breast cancer is the most common stage in Malaysia, accounting for about 34 per cent of cases. Having said that, the percentage diagnosed at a later stage (Stage 3 and Stage 4) is still high at 47.9%. Hence, we should improve more awareness towards the importance of early stage detection," said Dr Tan.

She added that women should begin regular checkups and self-examinations as early as age 20  for early prevention.

"As an upper-middle-income country, Malaysia faces both high incidence and high mortality rates for breast cancer. 

"In contrast, high-income countries with high developmental indices tend to have lower mortality rates despite higher incidence rates, likely due to better early diagnosis, increased awareness, and greater affordability of treatment," shared Dr Tan. 

SYMPTOMS & RISK FACTORS

According to Dr Tan, many people are only aware of family history as a risk factor for cancer.

"Many think that having a family history of cancer is the only significant risk. However, they are not as aware of other factors like early menarche — having the first menstrual period at a young age — or the use of hormonal contraceptives. 

"Late childbirth, not having children and not breastfeeding are also risk factors for breast cancer."

Furthermore, patients tend to only be aware of common breast cancer symptoms like breast lumps.

"There are other symptoms like axilla (under armpit) lumps, nipple retraction, nipple discharge, skin changes, dimpling as well as ulcer and "orange-peel" skin," she added.

If an individual is tested positive for BRCA1 or BRCA2 genes, breast cancer screening is recommended as early as 30 years old, using breast MRI instead of ultrasound or mammogram. - File pic credit (News Straits Times)

GENETIC TESTING 

If an individual is at high risk of developing breast cancer, genetic testing may be recommended. Doctors will use a risk calculator and family health history to determine the risk level.

"Genetic testing is reserved for individuals who are considered susceptible, rather than being used as a population-wide screening tool," said Dr Tan.

There are several misconceptions about genetic testing for cancer. People often fear discovering their cancer risk, and they mistakenly believe that genetic testing is a complex procedure.

"In reality, the testing involves a simple oral swab and a blood test. 

"However, pre-test counselling is essential to help individuals decide whether they want to proceed with the test. The actual testing process is also straightforward and not painful," said Dr Tan. 

"Following a genetic test, should the individual be tested positive for BRCA1 or BRCA2 genes, the recommended screening for breast cancer starts as early as 30 years old and using breast MRI instead of breast ultrasound or mammogram screening."

"This is because, for those with BRCA1 and BRCA2 genes, the lifetime cancer risk is two to six times higher. Therefore, if you are tested positive, there should be steps taken to reduce or prevent the cancer from occurring," said Dr Tan.

People often fear discovering their cancer risk and mistakenly believe the procedure is complex, when in reality, it involves a simple oral swab and a blood test. - File pic credit (National Cancer Institute/Unsplash)

These steps could range from risk-reducing surgery like bilateral breast removal (the removal of both breasts) or chemo-prevention, which involves taking medicines to help lower the risk of breast cancer.

It depends on how proactive the patient wants to be before a cancer diagnosis.

Furthermore, BRCA1 and BRCA 2 genes are linked to both breast and ovarian cancers, with the latter typically not showing symptoms until it is at  a late stage.

Early detection allows patients to consult a gynaecologist for advice on preventing ovarian cancer and to discuss possible treatments.

Dr Tan also emphasised that even if the genetic test comes out negative, women would still have the average risk of breast cancer.

"While genetic testing can rule out the familial factor, it does not eliminate other normal risks of developing breast cancer due to factors such as being a woman and increasing age," she added.

In the case that a patient is diagnosed with breast cancer, Dr Tan said that the disease is highly treatable at an early stage.

"Treatment has gone beyond just removal of breasts. We can now conserve breasts [by] doing a surgery to remove the lump followed by radiotherapy. Even if the breast needs to be removed, there is a reconstruction opportunity.

"We can use [a patient's] own body fat and muscle to make new breasts or put in a silicone implant. The outcome of reconstructed breasts will enhance a patient's physical and mental wellbeing," she said.

Dr Tan concluded that women ought to remain vigilant about their health and not underestimate the risk of breast cancer as they age.

"Screening is important because early detection is potentially life saving," she added, urging women to go for regular screening while they are still healthy, not  after symptoms start to appear.

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