October 20 ,  2020

Genetic tests for women’s cancers allows early identification and treatment

Taipei -- October is Breast Cancer Awareness Month. The latest Cancer Registry Annual Report indicated that breast cancer has long been the most common cancer in women, with more than 10,000 women diagnosed with the disease every year in Taiwan. Ovarian cancer is another common type of cancer in women. While the number of patients with ovarian cancer is lower than that of breast cancer, early stages of ovarian cancer cause very few noticeable symptoms. The disease is often spotted too late for treatment, causing higher mortality rate.

Fu Ou-Yang (歐陽賦), attending physician of the Department of Breast Surgery at Kaohsiung Medical University Chung-Ho Memorial Hospital, pointed out that breast cancer and ovarian cancer are associated with inherited gene mutations. Specific genetic mutations will significantly increase the risk of cancer.  However, potential patients can start early preparation if mutations are found through genetic testing. Now, Some of Next Generation Sequencing (NGS) designed specifically for women’s cancers are available. A simple blood test will help decode a large number of genes, helping you understand potential genetic mutations or DNA damage. Early detection will allow early prevention of risks of cancer.

BRCA1/2 genetic mutations increase risks of women’s cancers

Dr. Ou-Yang added that while most cancers are caused by environmental factors, about 10 percent of cancers are associated with (hereditary)genetic mutations. Among these diseases, top killers of cancers:  breast cancer and ovarian cancer are closely associated with genetic mutations, with BRCA1 and BRCA2 as the genes most commonly affected in hereditary breast and ovarian cancer.

Dr. Ou-Yang explained that BRCA1 and BRCA2 are two major genes responsible for repairing DNA. The BRCA1 and BRCA2 proteins are tumor suppressors genes that repair damaged DNA (and accurately regulate the grown of mammary glandular cell.) When one of the genes proteins is mutated, it results in a loss in its function, allowing the cell to grow abnormally and increasing the risks of breast and ovarian cancer.

American Cancer Society’s latest research showed that on average about 12 percent of women will develop breast cancer over the course of her lifetime. However, those with BRCA1 or BRCA2 mutations will have a higher risk of breast cancer to about 50 percent to 85 percent, and 25 times more likely to develop ovarian cancer. 

Those with a family history of women’s cancers are recommended to have genetic testing

Dr. Ou-Yang said that BRCA1 and BRCA2 mutations are transmitted in an autosomal dominant pattern, meaning that a BRCA1/BRCA2 carrier has a 50 percent chance to pass the mutation on to the next generation. Previously, people paid less attention to cancers caused by inherited genetic mutations. Now with the convenience of genetic testing, mutations can be detected early and allow appropriate prevention and treatment.

Who should get BRCA1 and BRCA2 genetic tests? Dr. Chia-Cheng Hung (洪加政), who received a doctoral degree from Graduate Institute of Medical Genomics and Proteomics of National Taiwan University, pointed out that in addition to finding out if one has inherited cancer genes, those who have more than two female family members diagnosed with breast, ovarian or endometrial cancer; those with close relatives under the age of 50 and diagnosed with early onset breast cancer, ovarian, endometrial cancer; those with family members who are diagnosed with breast, ovarian and endometrial cancer at the same time or twice diagnosed with one of the diseases; those that fall into the above mentioned categories should consider getting genetic tests.

Genetic tests for women’s cancers help identify risks early

Early detection enables early prevention

Dr. Ou-Yang said there was a lady in her thirties who just gave birth to her firstborn child was recommended by her doctor to get genetic tests as her mother was diagnosed with breast cancer. The tests showed that this lady have BRCA mutation, which has a higher risk of becoming inherited breast cancer. Thanks to the early detection and evaluation by the doctor, she had preventive mastectomy to avoid the risks of getting breast cancer. She was relieved as regular follow-up care showed no signs of breast cancer.

Dr. Hung said that patients with early breast and ovarian cancer are highly treatable. Early detection allows early prevention and care. Genetic tests for women’s cancer are currently available. A blood test of 10ml of blood can test BRCA1/2 mutations, as well as a total of 44 types of genes, including homologous recombination deficiency (HRD). The test results can reveal risks of getting cancer and as a reference for molecular diagnostics, which enables doctors to provide precision medicine that is customized for individual patients.


2017 Cancer Registry Annual Report. Health Promotion Administration, Ministry of Health and Welfare (2020)

Breast Cancer Facts & Figures 2019-2020. American Cancer Society. (2020).

BRCA: The Breast Cancer Gene - National Breast Cancer Foundation. National Breast Cancer Foundation. (2020). Retrieved 4 October 2020, from

BRCA1 & BRCA2 Genes: Risk for Breast & Ovarian Cancer. Memorial Sloan Kettering Cancer Center. (2020). Retrieved 4 October 2020, from