Genetic testing and therapy for breast cancer in women identifying as women of color

Genetic testing and therapy for breast cancer in women identifying as women of color

In the realm of breast cancer, a disease that affects millions worldwide, certain demographic groups face unique challenges and disparities. A recent study has highlighted the increased prevalence of genetic mutations and more aggressive breast cancer types in women of color, particularly Black women, compared to their white counterparts.

Many factors can influence treatment decisions and outcomes, including the stage of the cancer, the type of cancer, the size of the cancer, whether or not there is lymph node involvement, the person's age, and their overall health. However, a significant factor that has come to light is the higher prevalence of genetic mutations like TP53, BRCA1, and BRCA2 in women of color, especially Black women.

Research indicates that Black women are more likely to have mutations in the TP53 gene, the most commonly mutated gene in breast cancer and associated with tumor growth when mutated. This mutation is more prevalent in Black women than in non-Hispanic white women. Similarly, women of African ancestry tend to have a higher prevalence of pathogenic variants in BRCA1 and BRCA2 genes compared to women of European ancestry.

These genetic differences contribute to the disproportionate incidence of triple-negative breast cancer (TNBC) among Black women, a subtype characterized by lack of hormone receptors and HER2 expression, making it more aggressive and difficult to treat. Black women are more than twice as likely as white women to be diagnosed with TNBC, which is also linked to poorer outcomes and higher mortality.

Early detection is crucial in treating breast cancer, but detection in women of color is often slower, leading to more advanced stages of breast cancer being diagnosed. Genetic testing plays an important role in determining the risk of breast cancer, and women can consider testing if three or more women in their family had a breast cancer or ovarian cancer diagnosis, particularly if they received the diagnosis when they were younger than 50 years.

Testing for genetic mutations typically involves taking a sample of the person's blood or saliva. The genes that doctors test for include BRCA1, BRCA2, ATM, CHEK2, CDH1, PALB2, PTEN, STK11, TP53, and PIK3CA. Treatment options for breast cancer include surgery, chemotherapy, radiation therapy, hormone therapy, biological therapy, and immunotherapy, as well as lifestyle recommendations.

It is essential to note that both genetics and socioeconomic reasons may play a role in worsened clinical outcomes for women of color. Factors such as income, access to nutritious food, and healthcare also interplay with genetic predispositions to influence these outcomes.

Organisations like the Black Women's Health Imperative (BWHI) are working to address these disparities and advocate for improved access to healthcare and genetic testing for Black women. If a person's doctor does not recommend genetic testing, they may wish to get a second opinion by consulting another doctor or breast cancer specialist.

In conclusion, the higher prevalence of genetic mutations like TP53, BRCA1, and BRCA2 in women of color, especially Black women, correlates with more aggressive breast cancer subtypes and prognosis disparities. It is crucial to raise awareness about these disparities and work towards improving access to genetic testing and quality healthcare for all women.

References:

1. National Cancer Institute. (2021). Breast Cancer in African American Women. Retrieved from https://www.cancer.gov/about-cancer/causes-prevention/risk/genetics/breast-cancer-risk-factors-genetics
2. National Cancer Institute. (2021). BRCA1 and BRCA2 Genes. Retrieved from https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca1-brca2-genes-fact-sheet
3. American Cancer Society. (2021). Breast Cancer Facts & Figures for African Americans. Retrieved from https://www.cancer.org/content/dam/CRC/PDF/Public/8740.00.pdf
4. These genetic differences in women of color, particularly Black women, necessitate a closer look at the realm of breast cancer research.
5. The TP53 gene, associated with tumor growth when mutated, is more prevalent in Black women than in non-Hispanic white women.
6. Women of African ancestry have a higher prevalence of pathogenic variants in BRCA1 and BRCA2 genes compared to women of European ancestry.
7. The higher prevalence of genetic mutations leads to a disproportionate incidence of triple-negative breast cancer (TNBC) among Black women.
8. Black women are more than twice as likely as white women to be diagnosed with TNBC, a subtype linked to poorer outcomes and higher mortality.
9. Early detection is crucial in treating breast cancer, but detection in women of color is often slower, leading to more advanced stages.
10. Genetic testing plays an important role in determining the risk of breast cancer and may be considered if three or more women in a family have had a breast or ovarian cancer diagnosis.
11. The genes doctors test for include BRCA1, BRCA2, ATM, CHEK2, CDH1, PALB2, PTEN, STK11, TP53, and PIK3CA.
12. Treatment options for breast cancer include surgery, chemotherapy, radiation therapy, hormone therapy, biological therapy, immunotherapy, and lifestyle recommendations.
13. Socioeconomic factors may also contribute to worsened clinical outcomes for women of color.
14. Factors such as income, access to nutritious food, and healthcare interplay with genetic predispositions to influence these outcomes.
15. Organisations like the Black Women's Health Imperative (BWHI) are working to address these disparities and advocate for improved access to healthcare and genetic testing for Black women.
16. If a person's doctor does not recommend genetic testing, they may wish to get a second opinion by consulting another doctor or breast cancer specialist.
17. Resources like the National Cancer Institute and American Cancer Society provide in-depth information on breast cancer in African American women, BRCA1 and BRCA2 genes, and breast cancer facts & figures for African Americans.
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