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Breast cancer survivor urges others to get genetic testing
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Breast cancer survivor urges others to get genetic testing
Breast cancer survivor urges others to get genetic testing
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By: Dharshini Subbiah
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It has been three years since 64-year-old Madam Elaine Ho completed cancer treatment, and she is determined to share advice with her friends and family to, “Get genetic testing to find out if you’re at increased risk for developing cancer and listen to your doctor!”
A family history
Elaine has a strong family history of cancer. Her father, who was a smoker, was diagnosed with lung cancer and passed away in his early 70s. Of her 9 siblings, 3 had cancer – one sister had breast cancer in her 50s and ovarian cancer in her 60s, another sister was diagnosed with triple-negative breast cancer in her 30s, relapsed in her 50s and subsequently passed away, and a brother was diagnosed with lung cancer when he was 65 years old.
Elaine’s sister, who had passed away from breast cancer which had spread to the brain, was assumed to be a BRCA1 carrier (BReast CAncer Gene 1). This is a gene commonly affected in hereditary breast and ovarian cancers – carriers have an elevated risk of developing these cancers. Her son, Elaine’s nephew was advised by the hospital to inform his maternal uncles and aunts to get tested for BRCA1 as there was a possibility they could be carriers too. When her nephew passed Elaine a letter advising that she get genetic testing, she was open to the idea.
So, at the age of 57, Elaine underwent genetic testing at the National Cancer Centre Singapore (NCCS) and discovered that she was a BRCA1 carrier.
Moving onward to deal with her new status
Getting genetic testing can help individuals make decisions to reduce their risk of developing cancer.
(Credit: iStock.com/Md Saiful Islam Khan)
With the test results, Elaine decided to proactively reduce her risk of developing cancer after being counselled by Associate Professor Joanne Ngeow, Head of the Cancer Genetics Service at NCCS. She underwent risk-reducing surgery TAHBSO (Total Abdominal Hysterectomy and Bilateral Salpingo-Oophorectomy) to remove her ovaries and fallopian tubes in 2017.
While it seems like a radical decision, Elaine shared, “I was willing to do the surgery to remove my ovaries and fallopian tubes as I already had my children and was past menopause. But I decided not to have a mastectomy as there was nothing wrong with my breasts and I would continue regular surveillance.’
A routine scan leads to a shocking diagnosis
Three years later, when Elaine was going through regular surveillance a mammogram detected an abnormality in her left breast. After further checks including an ultrasound, biopsy and pet scan, Elaine was diagnosed with Stage 2B triple-negative breast cancer.
Elaine recalls feeling completely shocked at the news.
“I didn’t say much in the breast surgeon’s office when I got the diagnosis but after that I went to the bathroom and burst into tears! It just so happened that the surgeon was in the bathroom at the same time, and she took time to comfort me.”
Once the shock wore off, Elaine considered her options and quickly decided on the next steps.
In April 2020, Elaine started on a course of chemotherapy and immunotherapy. The experience wasn’t easy, she experienced rashes, weakness, vomiting, bloating, loss of appetite, heart palpitations and was hospitalised twice for fever and infection.
After she completed the course of chemotherapy, Elaine underwent a bilateral mastectomy to remove both breasts in October the same year.
Family and faith kept her strong
Elaine Ho’s family, friends and faith kept her going through her breast cancer journey.
(Credit: iStock.com/ChayTee)
Through the upheaval and turmoil, it was the support of her family that kept Elaine going.
“My brother drove me to all my medical appointments, my husband accompanied me to every clinical consultation with the doctor, and my daughters made special effort to spend more time with me and encourage me throughout my cancer treatment journey.”
Elaine’s circle of church friends also called, messaged and visited when possible, which was a challenge in 2020 as safe distancing restrictions were in place due to COVID.
Elaine completed her treatment and celebrated the significant milestone of attending her younger daughter’s wedding in September 2021.
Getting on with life and advising others
Today, Elaine is healthy and cancer-free and works as a teacher’s aide in a special needs school. She is relieved that her daughter has undergone genetic testing and is not a BRCA1 carrier.
“If I didn’t know I was a BRCA1 carrier, I would not have been going through a regular surveillance programme and the cancer would not have been detected in time to get prompt treatment. I believe it’s because of the genetic test that I have this good outcome.”
New study to better guide clinical management of Asian BRCA1/BRCA2 carriers
A team of clinician-scientists and scientists from the National Cancer Centre Singapore, University of Nottingham (Malaysia campus), Cancer Research Malaysia, Nanyang Technological University, Singapore, University of Malaya, University of Cambridge, A*STAR’s Genome Institute of Singapore and other institutions, conducted the largest study done to date of BRCA1 and BRCA2 (BReast CAncer Gene 1 and 2) carriers in an Asian population and refined breast and ovarian cancer risk estimates for this population, with findings,
published in
The Lancet Regional Health - Western Pacific in February 2024.
Before this, large-scale studies on BRCA1 and BRCA2 carriers had only been done in populations of primarily European
ancestry.
To address this pressing clinical need, the research team studied clinical data of 572 families of Chinese, Malay and Indian descent in Singapore and Malaysia with BRCA1 and BRCA2 mutations. Findings showed that the likelihood of these carriers developing breast cancer has increased over time, with the biggest increase found in people born after 1960. This increase is most likely caused by urbanisation and changes in reproductive patterns. Estimated breast cancer incidence for all ethnicities in the study was highest at age 55 and decreased after. The study also highlighted the incidence of cancer for BRCA1 and BRCA2 carriers in Singapore is similar to those in Western populations.
T
he study findings provide an important framework for estimating cancer risks in Asian carriers, allowing a more tailored approach to clinical management of this population. Genetic testing should be considered to identify carriers early, so that care planning can be personalised and early interventions,
su
ch as regular surveillance and risk reducing measures
can be implemented.
7/5/2024 10:34 AM
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