The clinical and molecular landscape of breast cancer in women of African and South Asian ancestry

Institution: Barts Cancer Institute, Queen Mary University of London
Corresponding Researcher: Claude Chelala
Email: c.chelala@qmul.ac.uk
Publication Link(s): Accepted Nature Communications
Data Link(s): NA
Keyword(s): genetic ancestry, inequality, African, South Asian, European, genomics, multi-modal

Summary

Our study evaluates the molecular and clinical effects of genetic ancestry in African and South Asian women compared to European using a combined cohort of 7,136 breast cancer patients. We find that non-European breast cancer patients present significantly earlier and die at a younger age. The African ancestry group has an increased prevalence of higher grade and hormone receptor negative disease. The South Asian group shows tendency towards lower stage at diagnosis and tumour mutational burden. We observe significant differences and similarities in the somatic mutational landscape. We identify differences in germline mutation rates in genes used in genetic testing and others implicated in breast cancer predisposition. Potential therapeutic candidates are differentially mutated. We report a higher propensity for homologous recombination deficiency serving as a potential therapy response indicator. We harness multimodal data to improve our understanding of ancestry-associated differences in breast cancer and highlight opportunities to advance health equity.