# African ancestry-associated gene expression profiles in triple-negative breast cancer underlie altered tumor biology and clinical outcome in women of African descent

Source: https://onco.cc/key-papers/paper-martini-african-ancestry-tnbc-cancer-discov-2022/  
OnCo record `paper-martini-african-ancestry-tnbc-cancer-discov-2022` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

RNA sequencing of triple-negative tumours from African Americans, West Africans and East Africans, with ancestry measured genetically rather than self-reported, found hundreds of genes tied to African ancestry and a distinct immune landscape in the tumours.

## Summary

RNA sequencing was performed on an international cohort of African Americans and West and East Africans with TNBC, with comprehensive genetic ancestry estimation. Expression of 613 genes was associated with African ancestry and more than 2,000 with regional African ancestry; a subset also differed in normal breast tissue. Pathway enrichment and deconvolution of tumour cellular composition revealed distinct tumour-associated immunological profiles in patients of African descent.

## Fields

- Kind: Key paper
- Last checked: 2026-09-24
- Journal: Cancer Discovery
- Year: 2022
- DOI: 10.1158/2159-8290.CD-22-0138
- Authors: Martini R, Delpe P, Chu TR, et al.
- Findings: 613 genes associated with African ancestry and over 2,000 with regional African ancestry in TNBC.; Tumour immune profiles differ by ancestry after quantified admixture.
- What it means: It replaces self-reported race with measured ancestry and shows the immune microenvironment of TNBC differs with it, a variable immunotherapy trials have not stratified on.
- Caveats: Cohort size and clinical outcome data are limited; expression associations are not yet causal.; Social determinants and ancestry remain entangled in outcome comparisons.

## Sources

- Martini et al., Cancer Discov 2022: African ancestry-associated expression profiles in TNBC: https://doi.org/10.1158/2159-8290.CD-22-0138
- PubMed: https://pubmed.ncbi.nlm.nih.gov/36121736/

## Connected records

- cancers: [Triple-negative breast cancer (TNBC)](https://onco.cc/cancers/tnbc/)
- pathways: [Tumour microenvironment (TME)](https://onco.cc/pathways/tumor-microenvironment/)
- journals: [Cancer Discovery](https://onco.cc/journals/cancer-discovery/)

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