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Malaysian Team Develops New Tool To Determine Likelihood Of Inheriting A Faulty BRCA Gene Among Asian Breast Cancer Patients

Malaysian Team Develops New Tool To Determine Likelihood Of Inheriting A Faulty BRCA Gene Among Asian Breast Cancer Patients

ARiCa tool developed for Asian women enables more accurate identification of BRCA carriers for more precise treatment plans for cancer patients while enabling cancer prevention for their close relatives.

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In line with this year’s International Women’s Day theme, Break The Bias, Cancer Research Malaysia joined the mission to assist women to be in a position of power to make an informed decision about their health through the development of ARiCa- Asian Genetic Risk Calculator.

This new tool enables women with a breast cancer diagnosis to determine their likelihood of inheriting a faulty BRCA1 or BRCA2 gene, tumour suppressor genes that help keep breast, ovarian, and other types of cells from growing and dividing too rapidly or in an uncontrolled way.

When it comes to breast cancer, data shows that 1 in 25 patients inherited a faulty BRCA gene. Prior to this research, breast cancer patients are only offered a test if they were diagnosed at a young age or had close relatives with breast or ovarian cancer.

But because age and family history alone does not accurately predict the likelihood of carrying a faulty gene, many gene carriers are not offered the genetic test, missing the opportunity for life-saving treatments in patients and prevention strategies in close relatives.

To overcome this challenge, a number of mutation prediction tools have been developed, but the majority of them are built for European women and are less accurate for women of Asian descent.

As a result, Asian patients and their family members miss out on the opportunity of being aware of their genetic risk status, thereby losing the possibility for cancer prevention and accurate treatment selection. 

To tackle this challenge, Cancer Research Malaysia collaborated with the University of Cambridge, Universiti Malaya, Subang Jaya Medical Centre, the University of Nottingham, the Genome Institute of Singapore, National University of Singapore, National University Hospital, KK Women’s and Children’s Hospital, Tan Tock Seng Hospital, National Cancer Centre Singapore, Singapore General Hospital, and Changi General Hospital, to analyse BRCA1 and BRCA2 in more than 8,000 breast cancer patients from Malaysia and Singapore.

The results were then used to develop a tool to provide women with an individual likelihood of being a faulty BRCA carrier.

Using criteria such as age and the presence of family history of breast cancer, we estimate that each year, nearly 4,000 newly diagnosed breast cancer patients in Malaysia would need genetic counselling and testing, but they often don’t consider a genetic test because most assume that they are unlikely to have inherited a faulty gene. With ARiCa, we can now give each woman their individual likelihood of being a BRCA carrier so that they can be empowered to make informed choices about their health and healthcare practitioners can provide more accurate treatment plans for their patients.

Professor Datin Paduka Dr Teo Soo Hwang, OBE, Chief Scientific Officer at Cancer Research Malaysia, who led the study.

This collaborative research that took place between Malaysia and Singapore hospitals, allowed us to gather test data from a multi-ethnic population of Malay, Chinese, and Indian breast cancer patients. This ensures that the tool developed performs equally well across Asian ethnic subgroups.

Dr Jingmei Li, co-principal investigator from the Genome Institute of Singapore.

More than 90% of genetic studies have been conducted in European women. With this current study, they’ve managed to develop a tool for predicting the chance of carrying a fault in BRCA1 or BRCA2 in Asian women.

Our study highlights the importance of doing research in diverse populations in order to ensure that the discoveries made in Precision Medicine can benefit all populations equitably. We are delighted that through the collaboration with Cancer Research Malaysia and the funding from the Wellcome Trust and the European Commission, we have been able to widen the research to Asian populations.

Professor Douglas Easton, Director of the Centre for Cancer Genetic Epidemiology, University of Cambridge and co-lead of the study.

Tools like CanRiskare now widely used in Europe, North America, Australia, and other countries. This research points the way on how we can adapt CanRisk for more accurate risk assessment in women from Asian countries. The information may be particularly important for adapting the tools for low- and middle-income countries where the funding and infrastructure may not be able to support screening for every woman.

Professor Antonis Antoniou, University of Cambridge, the lead developer of the BOADICEA and CanRisk tool in European women.

According to Dato’ Dr Yip Cheng Har, Consultant Breast Surgeon at Subang Medical Centre, knowing that a patient has a BRCA mutation may alter their surgical management, from a clinical perspective.

For instance, a patient with a BRCA mutation has a 50% likelihood of developing breast cancer on the opposite breast. An acceptable prevention strategy is to remove both breasts with an option of immediate breast reconstruction. But because a BRCA carrier also has a 30-40% risk of developing ovarian cancer, removal of the ovaries can be done at the same time. In addition to changing the available surgical options, medical practitioners can also prescribe the patient with a new class of drugs called PARP inhibitors that targets the BRCA mutation to improve survival in carriers with early and late stages of breast cancer. Since we cannot provide cancer genetics services for all patients, ARiCa can help us to identify patients that need to be referred for genetic counselling and testing.

Dato’ Dr Yip Cheng Har, Consultant Breast Surgeon at Subang Jaya Medical Centre

Professor Dr Nur Aishah Mohd Taib, Head of the University Malaya Cancer Research Institute, hopes that tools like ARiCa will enable other hospitals to set up similar risk management clinics.

Prophylactic surgery and targeted therapy may not be routinely available in government-funded and public hospitals, but knowing the BRCA mutation status is important for patients and family members. This is in order for them to be aware of their individual risk that enables early detection of cancer and other risk management strategies. At University Malaya, we have set up a risk management clinic for more than 10 years to help affected and unaffected carriers get access to risk-reducing strategies and we hope tools like ARiCa will enable other hospitals to set up similar clinics. Currently, we refer patients for genetic counselling and testing based on age and family history of cancer due to the lower median age of cancer diagnosis among Asian women. These exacerbate the challenges in access to genetic testing even in developed Asian countries like Singapore. Therefore, a population-specific tool like ARiCa that enables more accurate identification of mutation carriers can help to meet the increased demand for cancer genetics services

Professor Dr Nur Aishah Mohd Taib, Head of the University Malaya Cancer Research Institute.

The study was published in the prestigious Journal of Clinical Oncology. Its findings will inform doctors, clinicians, and patients on better methods to enable women to understand their likelihood of inheriting a faulty BRCA1 or BRCA2 gene.

For BRCA carriers like Angelina Jolie, knowing their lifetime risk could mean making different decisions about prevention in consultation with a specialist.

This was made possible thanks to the support of research grants and charitable funding from the Wellcome Trust, Yayasan Sime Darby, Yayasan PETRONAS, Estee Lauder Group of Companies, Khind Starfish Foundation, Malaysian Ministry of Higher Education High Impact Research Grant, National Research Foundation Singapore, National University of Singapore, National Medical Research Council, and Cancer Research UK.

As a first author of this study, I feel privileged to have this paper published in a highimpact journal and thiswould not have been possible withoutThe Malaysian Breast Cancer Genetic Study (MyBrCa),The Singapore Breast Cancer Cohort Study (SGBCC),andlong-standing collaborations — at local and international levels.

Dr Ang Boon Hong, Postdoctoral Scientist at Cancer Research Malaysia.

Read the study:

More information on BRCA testing:

Get genetic counselling: or call 012 374 7426 or 016 363 4742.

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