Breast cancer is the most commonly diagnosed cancer in women worldwide. In 2020, 2.3 million women were diagnosed with breast cancer, of which 685,000 died.1 Although 93% of women with breast cancer are over 40,2 it is the younger patients who have aggressive cancers with a higher risk of recurrence and death.
A younger patient has a 5-year relative survival for cancer stages 1 to 2 is 84% versus 92% for older women, 47% versus 55% for stage 3, and 15% versus 20% for stage 4. Genetic mutations associated with breast cancer are more common in younger patients.2,3
Gene mutations characteristic of young breast cancer patients
The most common gene mutations leading to breast cancer in young patients mutations occur in the BRCA1, BRCA2, and PALB2 genes. These genes play an important role in DNA repair, cell cycle regulation, and maintaining genome stability. They encode tumour suppressor genes that normally protect the cell from malignant transformation. When a mutation occurs in this gene, the likelihood of developing cancer is significantly increased.2,3 Other mutations that are predominantly mutational in young breast cancer patients relate to the GATA3, HR+HR2, and ARID1A.3
Breast cancer detection
Breast cancer is typically detected through self-examination, mammography, ultrasound, MRI, and biopsy.4
Self-examination
It is important for a woman to regularly examine their breasts and pay attention to their texture and feel and if there are any of the following:
- nipple discharge,
- breast pain,
- thickening, swelling of the skin,
- or the feeling of lumps or bumps on your surrounding breasts.
If there are abnormalities found, it is essential to consult a doctor. After examination, it is common to require additional tests.4
Mammography
Mammography is an X-ray screening of the breast. The MRI can show the slightest pathological changes in tissues and formations at any stage of development.4
Ultrasound
Ultrasound uses sound waves to create images of structures deep within the body. An ultrasound determines if a new breast tumour is a solid mass or a fluid-filled cyst.4
Magnetic resonance imaging
A magnetic resonance imaging (MRI) machine uses a magnet and radio waves to take pictures of the breast tissue. The pictures can help clarify the size of the tumour and check for the presence of additional tumour formations.4
Biopsy
A biopsy is a test in which a small piece of breast tissue will be removed for microscopic inspection to diagnose aggressive breast cancer definitely. The biopsy samples are sent to a laboratory for analysis, where specialists determine whether the cells are cancerous. The tissue is also analyzed to determine the type of cells involved in breast cancer, the aggressiveness, and whether the cancer cells have receptors that may affect treatment options.4
Genetic testing
Genetic tests of the cancerous tissue may be used to determine the risk of developing cancer, and its chance of recurrence, and can help with treatment specification. The testing looks for mutations in specific genes and is especially recommended for women with a family history of cancers.5
Why is it important?
Currently, women diagnosed with aggressive breast cancer receive the same treatment despite their age. However, research shows that breast cancer develops through different mechanisms in women of different ages. With the advent of targeted cancer therapies (oncotherapies) and genomic testing, the likelihood for earlier detection and individualized therapies is possible.
References
- Arnold M, Morgan E, Rumgay H, et al. Current and future burden of breast cancer: Global Statistics for 2020 and 2040. Breast. December 2022. https://doi.org/10.1016/j.breast.2022.08.010
- Anders CK, Johnson R, Litton J, Phillips M, Bleyer A. Breast cancer before age 40 years. Seminars in Oncology. 2009;36(3):237-249. https://doi.org/10.1053/j.seminoncol.2009.03.001
- Luen SJ, Viale G, Nik-Zainal S, et al. Genomic characterisation of hormone receptor-positive breast cancer arising in very young women. Annals of Oncology. 2023;34(4):397-409. https://doi.org/10.1016/j.annonc.2023.01.009
- American Cancer Society. Breast Cancer Early Detection and Diagnosis. Cancer.org. Published 2018. https://www.cancer.org/cancer/breast-cancer/screening-tests-and-early-detection.html
- Genetic Counseling and Testing for Breast Cancer Risk. www.cancer.org. Published September 10, 2019. https://www.cancer.org/cancer/breast-cancer/risk-and-prevention/genetic-testing.html
