What genes could help to predict recurrence in breast cancer?

Breast cancer remains a major health problem, even with the latest advancements in technology and research. According to the National cancer registry- India, breast cancer is the most common cancer in India accounting for 27% of all cancers in women. As per recent estimations, 1 in every 28 Indian women is likely to develop breast cancer during her lifetime, and 1 in every two women newly diagnosed with breast cancer pass away due to the disease. Early intervention has made an impact, but often a major concern for a large number of breast cancer patients is facing cancer again or “recurrence”.

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Recurrence of breast cancer is clinically a huge problem and represents the principal cause of breast cancer-related deaths 1. As per the data from population and hospital-based cancer registries, a lot of patients in India are being diagnosed with breast cancer in their late 20s or early 30s. The risk of recurrence was directly tied to original cancer’s size and characteristics, age below 40 years, adjuvant systemic therapy and to the number of lymph nodes that were cancerous.

The highest risk of recurrence for breast cancer patients is during the first 2 to 5 years following treatment, but however, recurrence can happen even after many years. A 2017 study 2 published in the New England Journal of Medicine reported that even 20 years after a diagnosis, women with breast cancer fueled by estrogen still face a substantial risk of cancer recurrence or spreading. So, what factors play a major role in breast cancer recurrence?

Do molecular factors influence breast cancer recurrence?

Other than BRCA 1/2 genetic mutations that account for up to 80% of risk of developing breast cancer, there are a number of other genes, including ATM, BARD1, BRIP1, CASP8, CTLA4, CYP19A1, FGFR2, H19, LSP1, MAP3K1, MRE11A, NBN, RAD51, and TERT, that are thought to also increase the risk of developing breast cancer when they carry a mutation. Breast cancer is a complex disease in which a number of cellular pathways involving cell growth and proliferation are altered. A number of studies have tried to predict molecular patterns for breast cancer recurrence. This includes studies in various breast cancer subtypes wherein breast cancers are characterized by the presence of receptors such as estrogen receptor (ER), progesterone receptor (PR), and HER2/ErbB2 receptor (HER2). Some studies suggested that ER-negative breast cancers are associated with a higher risk of recurrence during the initial 5 years after diagnosis, compared to ER-positive breast cancers.

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Further research revealed that over-expression of HER2 gene is found almost exclusively in breast cancer patients which is associated with higher recurrence rates and lower response to chemotherapy or hormone therapy 3, 4. However, the causes of breast cancer recurrence and the possible strategies to prevent it remain elusive. Breast cancer mortality is largely related to either resistance to therapies or metastasis to distant organs, all of which contribute to recurrence. Hence, early detection and better surveillance plays a pivotal role in reducing the recurrence of breast cancer and mortality rates.

How genetic counselling alters the situation

Genetic counsellors are healthcare providers who are trained in genetics and the psychological effects of learning about the inherited risk. Their skills include assessing the patient’s personal health history and their complete family history very thoroughly. They make an estimate of which genes are relevant to test by drawing a family tree, a pedigree, with all the cancers in the family. They will explain to the patient about the genetic testing options and their current limitations. Genetic counsellors provide individuals with an accurate assessment of their personal risk for developing breast cancer and offer a plan for follow-up and preventive care. Genetic counsellors also suggest management options to the individuals to reduce the risk of recurrence of cancer and for early detection.

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At truGeny, our certified genetic counsellors will help translate genetic information into clinical practice while navigating the psychological, ethical and legal pitfalls. To ensure access to quality genetic services for all individuals, truGeny offers genetic counselling services via tele-genetic sessions with a vision to improve patient’s access to health care in areas with geographical barriers, reducing the cost burden and saving time.


  1. Moody, S. E., Perez, D., Pan, T. C., Sarkisian, C. J., Portocarrero, C. P., Sterner, C. J., … & Chodosh, L. A. (2005). The transcriptional repressor Snail promotes mammary tumor recurrence. Cancer cell, 8(3), 197-209.
  2. Pan, H., Gray, R., Braybrooke, J., Davies, C., Taylor, C., McGale, P., … & Hayes, D. F. (2017). 20-year risks of breast-cancer recurrence after stopping endocrine therapy at 5 years. New England Journal of Medicine, 377(19), 1836-1846.
  3. Klapper, L. N., Kirschbaum, M. H., Seta, M., & Yarden, Y. (1999). Biochemical and clinical implications of the ErbB/HER signaling network of growth factor receptors. In Advances in cancer research (Vol. 77, pp. 25-79). Academic Press.
  4. Ross, J. S., Fletcher, J. A., Bloom, K. J., Linette, G. P., Stec, J., Symmans, W. F., … & Hortobagyi, G. N. (2004). Targeted therapy in breast cancer: the HER-2/neu gene and protein. Molecular & Cellular Proteomics, 3(4), 379-398.