A new breakthrough study of cancer

In 2013, American actress Angelina Jolie, who had never had cancer, decided to undergo a prophylactic double mastectomy because she had a mutation in the BRCA1 gene. This increases her risk of developing breast cancer (87%). And in 2015, she removed ovarian cancer and fallopian tubes, reducing the risk of developing ovarian cancer, which killed her mother at the age of 56.

Known as Breast Cancer Risk (BRIDGES) After Diagnostic Gene Sequencing, the study was published in the prestigious New England Journal of Medicine and consisted of more than 113,000 participants from around the world, including Asian participants from Malaysia. I am.

Datin Paduka Dr Teo Soo Hwang, Chief Scientific Officer of Cancer Research Malaysia, co-led the Bridges research. Photo: Cancer Research Malaysia

“Today, Asians make up 50% of the world’s population, but only 10% of genomics and genetics studies, but this study, which is currently the largest in the world, addresses that.” Dr. Teo Soo Hwang, Professor Datin Paduka, Chief Scientific Officer of Cancer Research Malaysia, who co-led the study, said.

“A collaboration involving two Malaysian hospitals and seven Singapore hospitals has helped increase the proportion of Asians in the survey from less than 2% in 2015 to 14% in 2020,” she said. I will.

Dr. Theo gladly added that the components of Asia are led by Malaysians: University of Malaya Medical Center, Subang Jaya Medical Center and Cancer Research Malaysia.

According to Dr. Teo, this study is critical because it analyzes 34 genes commonly found in genetic panel tests and narrows them down to 12 genes that are associated with breast cancer risk.

The BRIDGES study was led by Professor Douglas Easton, director of the Center for Cancer Genetic Epidemiology at the University of Cambridge, and funded by the Wellcome Trust and the European Commission. The Malaysian element of research was made possible by the support of research grants and funding from companies in the Wellcome Trust, Yayasan Sime Derby, Yayasan Petronas and Estee Lauder Group.

Previously, genetic testing for cancer and other diseases has been provided to patients without a complete understanding of what recommendations should be made in terms of genetic counseling and prevention and screening.

The results of this study provide physicians, clinicians, and businesses that provide genetic testing with information to better serve patients and their families about the appropriate set of genes associated with breast cancer risk.

Main survey results

There are three important discoveries in this study.

First, there are 12 genes associated with breast cancer.

“If a woman has a mother, sister, or aunt affected by breast cancer, doctors could only test two genes (BRCA1 and BRCA2) before, but a new study allows doctors to test 12 genes. Now, “says Dr. Theo.

“Previously, it was assumed that the whole family was at high risk because of two genes, but now that 12 genes can be tested, some people have developed cancer due to other genes. And you can see that some families have the gene, but the rest may not inherit it, “she says.

“It knows exactly which genes occur in the family, the degree of risk associated with genetic alterations, what information can be provided to the family, and whether they are gene carriers. This helps you manage your family more accurately, “she explains.

Second, gene carriers’ preventive strategies are genes because some of the 12 genes are associated with all types of breast cancer, while others are associated only with certain types of cancer. It may vary depending on.

“BRCA1 and BRCA2 increase the risk of major subtypes of breast cancer, but some of the 12 genes do not increase the risk of all cancers, they only increase the risk of certain types of breast cancer.” Dr. Theo says.

“Therefore, the preventive strategies of these carriers need to be different depending on the genes they inherit. Currently, little is known about genetic preventive strategies, so most of the future research will be Angelina Jolie. Finding a better way to prevent breast cancer in an individual so that you don’t have to resort to prophylactic mastectomy like, “she adds.

Third, the risk of cancer is lower in Asians than in Europeans, and more research is needed in Asians.

“Asians are more likely to have genes that predispose to cancer like whites, but have a 45% -65% lifetime risk of developing breast cancer compared to 65% -87% of whites. Significantly lower. This is because screening and prevention recommendations have been adjusted differently for Asian women, “she says.

“Because there is no population-based screening in Malaysia, women need to take the lead in knowing their risk factors and going to opportunistic tests,” said Dr. Nur Aishah. Photo: Cancer Research Malaysia

Know your risk factors

Dr. Nur Aishah Mohd Taib, a professor at the Universiti Malaya Cancer Institute, one of the Malaysian researchers in the study, said: As Malaysia does not have population-based screening, women need to take the lead in learning about their risk factors and going to opportunistic tests. “

“Many women with a family history of cancer have little information about how to access screening and genetic testing, but they still have breast cancer or other cancer clusters (breast cancer, colon) in their families. Whether they have a strong family history of rectal cancer, Sakuma cancer, breast cancer such as breast cancer), their risk factors need to be known and they need to see a doctor to assess their risk.

“These genes can be tested with specially tailored intensive screening,” she says.

“Patients can also participate in risk management training to become familiar with and recommend specialists in risk-mitigating surgery and other treatments,” she adds.

However, both panelists emphasize that breast cancer is not determined solely by a single factor, such as genetics. There are several factors that can cause cancer. For example, there are few older children, younger menstruation, late menopause, physical activity and drinking.

Possible solutions

Bridges’ research reveals that there are 12 genes that can be tested to assess the risk to cancer. Photo: Cancer Research Malaysia

Surgery to remove the ovaries and fallopian tubes, as Angelina Jolie did, can reduce the risk of future cancer by 80-85%.

“But the question for women is whether to do this at the young age of 35 (because the risk increases after the age of 30). This is the loss of childbirth and premature menopause in young women who are still in the prime minister. It’s a difficult decision because it means, “says Dr. Nur Aishah.

“Also, surgery to remove both breasts can prevent breast cancer, but it’s not 100%,” she says.

“Risk can also be managed by intensive screening. In addition to mammograms, there are also magnetic resonance imaging (MRI) of BRAC1 carriers, which can be done annually after age 30,” she adds. I am. “People who carry the BRCA2 gene can also use drugs to reduce their risk.”

Need support

More future patients and donors are required to move forward to support Asian breast cancer research. Photo: pixabay

Dr. Theo encourages future patients and donors to step forward to support Asian breast cancer research.

“We want more patients to provide tissue and blood samples for research to improve their survival,” she says.

“It’s scary to know that you may inherit a gene that is at high risk for cancer, but in reality, carriers can survive the cancer like any other patient. Breast cancer survival has improved dramatically with the development of medicine, “she concludes.

For more information, please visit: Cancer Research Malaysia