{"entity":{"id":"paper-huo-tcga-ancestry-breast-jama-oncol-2017","kind":"paper","name":"Comparison of breast cancer molecular features and survival by African and European ancestry in The Cancer Genome Atlas","aka":[],"tldr":"Among 930 TCGA patients, those of African ancestry were nearly four times as likely to have basal-like cancer, had more TP53 and fewer PIK3CA mutations and relapsed sooner; about 44% of the subtype difference was explained by inherited variants.","summary":"Tumour and matched normal data for 930 TCGA breast cancer patients (154 black patients of African ancestry, 776 white of European ancestry) were compared. Black patients had a worse breast cancer-free interval (HR 1.67), higher odds of basal-like (OR 3.80) and HER2-enriched (OR 2.22) subtypes, more TP53 and fewer PIK3CA mutations. Most molecular differences disappeared after adjusting for intrinsic subtype, leaving 16 methylation probes, 4 copy-number segments, 1 protein and 142 genes differentially expressed. Heritability of basal versus non-basal subtype from germline genotypes was 0.436; the ER-negative polygenic risk score was much higher in black patients.","asOf":"2026-09-24","links":[{"label":"Huo et al., JAMA Oncol 2017: breast cancer molecular features by African and European ancestry in TCGA","url":"https://doi.org/10.1001/jamaoncol.2017.0595"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/28472234/"}],"tags":[],"related":[],"cancers":["tnbc","breast-cancer"],"sections":[],"technologies":[],"targets":["tp53","pik3ca"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["pam50"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["jama-oncology"],"dependsOn":[],"notes":[],"journal":"JAMA Oncology","year":2017,"doi":"10.1001/jamaoncol.2017.0595","pmid":"28472234","authors":"Huo D, Hu H, Rhie SK, et al.","paperType":"observational","findings":["African ancestry: basal-like OR 3.80, HER2-enriched OR 2.22, breast cancer-free interval HR 1.67.","More TP53 and fewer PIK3CA mutations; most differences explained by subtype.","Heritability of basal versus non-basal subtype 0.436; higher ER-negative polygenic risk score."],"whatItMeans":"The excess of triple-negative disease in women of African ancestry is substantially genetic in origin rather than only social, which supports ancestry-aware risk models and trial enrolment.","caveats":["Convenience cohort with self-reported race refined by genotype; 154 black patients.","Survival follow-up in TCGA is short."],"changedPractice":false,"participants":930},"route":"/key-papers/paper-huo-tcga-ancestry-breast-jama-oncol-2017/","neighbours":{"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"tnbc","kind":"cancer","name":"Triple-negative breast cancer (TNBC)","route":"/cancers/tnbc/"}],"target":[{"id":"pik3ca","kind":"target","name":"PIK3CA / PI3K-alpha","route":"/targets/pik3ca/"},{"id":"tp53","kind":"target","name":"TP53","route":"/targets/tp53/"}],"term":[{"id":"pam50","kind":"term","name":"PAM50 / intrinsic subtypes","route":"/terms/pam50/"}],"journal":[{"id":"jama-oncology","kind":"journal","name":"JAMA Oncology","route":"/journals/jama-oncology/"}]}}