Traditionally, genetic studies on breast cancer have predominantly focused on women of European ancestry.
The groundbreaking findings stem from a comprehensive analysis encompassing over 40,000 women of African descent across the United States, Africa, and Barbados, among whom 18,034 were diagnosed with breast cancer.
This research marks a significant stride forward, uncovering mutations previously unassociated with the disease or exhibiting weaker correlations, hinting at potential disparities in genetic risk profiles between women of African and European descent, as elucidated in the publication in Nature Genetics.
One newly unearthed mutation stands out, linked to a condition seldom encountered in the realm of cancer genetics, emphasizing the unique genetic landscape of breast cancer in this population.
New breast cancer genes found in women of African ancestry, may improve risk assessment https://t.co/R66v665Ij8 pic.twitter.com/BsAHPikFi8
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Remarkably, certain genes implicated in heightened breast cancer risk among Caucasian women showed no association in this cohort, underscoring the necessity for ethnicity-specific research.
Statistics reveal a stark reality: African American women in the United States face elevated risks, with higher incidence rates before age 50, more aggressive forms of the disease, and a 42% higher mortality rate compared to their white counterparts, as reported by the American Cancer Society.
Integration of these newfound genes with established breast cancer markers like BRCA1 and BRCA2 has enabled the development of a more precise breast cancer risk assessment tool tailored for women of African descent, surpassing existing methodologies in accuracy.
African American women who harbor genes such as BRCA1/2 and PALB2 develop cancer 15 years younger than the average woman.https://t.co/7bYIqDfDsw#Breast #Breastreconstruction #reconstructivesurgery#BreastCancer #Mastectomy pic.twitter.com/tEnaaCFRIW
— Brave Coalition (@BraveCoalition) June 25, 2022
Moreover, six of the identified genes are correlated with an increased risk of triple-negative breast cancer, the most aggressive subtype. Previous studies have indicated that black women are nearly three times more likely to develop this form of breast cancer compared to white women.
Intriguingly, women harboring all six gene variants exhibited a staggering 4.2-fold higher likelihood of developing triple-negative breast cancer than those devoid of or possessing only one variant, highlighting the pivotal role of genetic factors in disease manifestation.