Genomic Screening For Breast Cancer: The Key To Understanding Your Breast Cancer Risk

In Malaysia, breast cancer is the most common cancer among women, and it continues to present a serious health challenge [1, 2]. Despite increased breast cancer awareness and screening efforts, almost 50% of breast cancer cases are diagnosed at Stage 3 or 4 [1, 2]. At these late stages, treatment options become more complex, and the breast cancer survival rate drops dramatically, with the American Cancer Society reporting a 5-year survival rate of 31% for Stage 4 breast cancer in women [3]. Imagine the difference if these cancers were caught earlier – Stage 1 breast cancer has a survival rate of an incredible 99% [3].

This Breast Cancer Awareness Month, Qualitas Health Malaysia is introducing a powerful tool to help women take control of their health: genomic cancer screening. Genomic screening for cancer is a game-changing tool that goes beyond traditional methods to offer a personalised approach to breast cancer prevention. By understanding your unique genetic risks, you can take control of your health long before any symptoms appear, putting you in an informed position to take the necessary next steps to best safeguard your health.

Promoting Breast Cancer Awareness: Symptoms and Stages

Breast cancer doesn’t develop overnight. It starts small, with the growth of abnormal cells in breast tissue that often go unnoticed until they’ve progressed to tumours [4]. Recognising the early symptoms of breast cancer is key. Common signs of breast cancer include [4]:

  • A lump or thickening in the breast or underarm
  • Changes in the size, shape, or appearance of the breast
  • Dimpling or irritation of the breast skin
  • Nipple discharge or pain
  • Redness or flaky skin on the breast or nipple

However, symptoms of breast cancer are not always so obvious. This is the case for some women, namely breastfeeding mothers. Breast changes during pregnancy and lactation, such as increased firmness and density, often make physical and radiological breast exams more difficult, leading to delayed diagnosis [5,6]. Studies have shown that breastfeeding women diagnosed with breast cancer are often in more advanced stages (Stage 3 or Stage 4). For instance, a case study involving three Sri Lankan breastfeeding mothers revealed that two were diagnosed with Stage 3 invasive breast cancer, while one was diagnosed with Stage 4 metastatic breast cancer [5]. This difficulty in distinguishing between benign lactation-related changes and cancerous growths can result in missed or delayed detection [5,6]. As such, it is important to emphasise the need for genomic screening for breast cancer to overcome limitations of traditional breast cancer screenings.

Woman doing a breast self exam while looking at the mirror
Do a breast self-exam monthly to look out for symptoms of breast cancer!

The Role of Genomic Screening in Early Detection

So, what exactly is genomic screening, and how does it improve early detection? Genomic screening works by analysing your DNA to identify specific gene mutations that may increase your risk of developing breast cancer [7, 8]. It goes beyond identifying visible symptoms, allowing for early detection before any physical signs appear [9]. Being aware of your risk ahead of time can lead to earlier, more frequent breast cancer screenings, lifestyle changes, or even preventive surgeries in high-risk cases.

Inherited mutations account for 5% to 10% of all cancers [10]. In the case of breast cancer, women with these mutations in the BRCA1 and BRCA2 genes can have up to an 88% risk of developing breast cancer [11]. Research shows that 1 in 400 people carry a BRCA mutation, and if one of your parents has the mutation, you have a 50% chance of inheriting it [12]. Family history also plays a major role; if you have multiple relatives diagnosed with breast cancer, especially at a young age, your own risk increases [10, 12].

Recent advances in genomic testing have uncovered other genetic factors as well, such as mutations in the TP53 gene, which is more commonly found in Asian women compared to Caucasian women [13]. These genetic variations contribute to more aggressive forms of breast cancer, like HER2-positive breast cancer, which is also more prevalent in Asian populations [13]. With the breast cancer genomic screening, women in Malaysia can be more aware about their unique breast cancer risks and take proactive steps to manage them.

Who Should Get Genomic Screening for Breast Cancer?

Genomic screening is especially beneficial for individuals with the following risk factors [10, 12]:

  • Strong family history of breast or ovarian cancer, particularly with first-degree relatives (mother, sister, daughter).
  • Known family members who carry BRCA1 or BRCA2 mutations.
  • Multiple relatives diagnosed with breast cancer, especially if diagnosed at a young age.
  • Personal history of breast or ovarian cancer.
  • Women with dense breast tissue, as this makes the cancer harder to detect through mammograms.
  • Early menstruation or late menopause, both of which slightly increase the risk of breast cancer.
  • Lifestyle factors such as smoking, excessive alcohol consumption, or lack of exercise.

Ultimately however, genomic screening is valuable for anyone who wants to take proactive steps towards early breast cancer detection and prevention by understanding how their unique genetic profile increases their breast cancer risk.

Woman getting consulted by doctor on genomic screening results for breast cancer.
By knowing your breast cancer risk via the genomic cancer screening, you can start making medically-informed lifestyle changes to reduce your risk and improve your overall well-being.

Genomic Screening For Breast Cancer Is Not Just a Recommendation — It’s a Life-Saving Practice

As we acknowledge Breast Cancer Awareness Month, it’s the perfect time to consider how breast cancer genomic screening can empower women. In Malaysia, breast cancer accounts for 19% of all cancer diagnoses, with many cases being detected late [14]. By incorporating a one-time genomic screening into regular breast cancer health checks, women can gain a more comprehensive view of their cancer risk.

Genomic screening doesn’t replace traditional methods like mammograms or clinical breast exams; it enhances them. For example, combining genomic testing data with your regular screenings can pinpoint the most effective ways to reduce your risk of breast cancer. It allows doctors to spot potential dangers earlier and recommend breast cancer prevention strategies that fit your personal risk profile. It also offers peace of mind — knowing your genetic risks will help you make informed decisions about your health.

Book Your Breast Cancer Genomic Screening With The Qualitas Plus App

This Breast Cancer Awareness Month, make your health a priority. From now till 30 th November 2024, Qualitas Health Malaysia is offering genomic screenings for cancer at special discounts, designed to give you the most comprehensive view of your health. Book an appointment through the Qualitas Plus app and take a step towards safeguarding your future. With the right approach, early detection doesn’t have to be a matter of chance — it can be a proactive part of your healthcare routine.

References
[1] Htay, M. N. N., Donnelly, M., Schliemann, D., Loh, S. Y ., Dahlui, M., Somasundaram, S., Ibrahim
Tamin, N. S. B., & Su, T. T. (2021). Breast Cancer Screening in Malaysia: A Policy Review. Asian Pacific
Journal of Cancer Prevention, 22(6), 1685–1693. https://doi.org/10.31557/apjcp.2021.22.6.1685

[2] Management of Breast Cancer (Third Edition). (2019). Ministry of Health Malaysia.
https://www.moh.gov.my/moh/resources/Penerbitan/CPG/Kanser/Breast%20Cancer/QR_Management_of_Breast_Cancer_(Third_Edition)_130720.pdf

[3] Survival rates for breast cancer. (2023, March 1). American Cancer Society.
https://www.cancer.org/cancer/types/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-survival-rates.html

[4] Symptoms of Breast Cancer. (2024, February 21). CDC.
https://www.cdc.gov/breast-cancer/symptoms/index.html

[5] Wijesinghe, K., Jayarajah, U., Gamage, H., De Silva, S., & De Silva, A. (2023). Breast cancer in lactating mothers: A case series of delayed diagnosis. International Journal of Surgery Case Reports, 102, 107856. https://doi.org/10.1016/j.ijscr.2022.107856

[6] Woo, J. C., Yu, T., & Hurd, T. C. (2003). Breast Cancer in Pregnancy. Archives of Surgery, 138(1), 91. https://doi.org/10.1001/archsurg.138.1.91

[7] Li, J., Guan, X., Fan, Z., Ching, L.-M., Li, Y., Wang, X., Cao, W.-M., & Liu, D.-X. (2020). Non-Invasive Biomarkers for Early Detection of Breast Cancer. Cancers, 12(10), 2767. https://doi.org/10.3390/cancers12102767 

[8] What is a genomic test? (n.d.). Melbourne Genomics Health Alliance.
https://www.melbournegenomics.org.au/genomics-explained/what-genomic-test

[9] Sharma, P., Sahni, N. S., Tibshirani, R., Skaane, P., Urdal, P., Berghagen, H., Jensen, M., Kristiansen, L., Moen, C., Sharma, P., Zaka, A., Arnes, J., Sauer, T., Akslen, L. A., Schlichting, E., Børresen-Dale, A.-L., & Lönneborg, A. (2005). Early detection of breast cancer based on gene-expression patterns in peripheral blood cells. Breast Cancer Research, 7(5). https://doi.org/10.1186/bcr1203

[10] National Cancer Institute. (2012). Genetic Testing for Hereditary Cancer Syndromes. National Cancer Institute; Cancer.gov. https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet

[11] Engel, C., & Fischer, C. (2015). Breast Cancer Risks and Risk Prediction Models. Breast Care, 10(1), 7–12. https://doi.org/10.1159/000376600 

[12] Shockney, L. D. (Ed.). (2023, July 15). Genetic Testing for Breast Cancer. National Breast Cancer Foundation. https://www.nationalbreastcancer.org/genetic-testing-for-breast-cancer/

[13] Pan, J.-W., Zabidi, M. M. A., Ng, P.-S., Meng, M.-Y., Hasan, S. N., Sandey, B., Sammut, S.-J., Yip, C.-H., Rajadurai, P., Rueda, O. M., Caldas, C., Chin, S.-F., & Teo, S.-H. (2020). The molecular landscape of Asian breast cancers reveals clinically relevant population-specific differences. Nature Communications, 11(1). https://doi.org/10.1038/s41467-020-20173-5 

[14] MOH. (2019). Malaysia national cancer registry report 2012- 2016. National Cancer Registry Department, National Cancer Institute, Ministry of Health Malaysia.
https://www.moh.gov.my/moh/resources/Penerbitan/Laporan/Umum/2012-2016%20(MNCRR)/MNCR_2 012-2016_FINAL_(PUBLISHED_2019).pdf