ArticleCancer research2023
Profiling the Somatic Mutational Landscape of Breast Tumors from Hispanic/Latina Women Reveals Conserved and Unique Characteristics.
Article in Cancer research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 21 citations in OpenAlex.
- Multi-omics driven computational framework for cancer molecular subtype classification.Scientific reports · 2025Article
- Association between ancestry and tumor somatic mutations in a large national cohort of women with breast cancer.NPJ breast cancer · 2025Article
- The Vps13-like protein BLTP2 regulates phosphatidylethanolamine levels to maintain plasma membrane fluidity and breast cancer aggressiveness.Nature cell biology · 2025Article
- Colorectal Tumors in Diverse Patient Populations Feature a Spectrum of Somatic Mutational Profiles.Cancer research · 2025Article
- Creation and Characterization of a Breast Cancer Tissue Microarray Including Black and White Patients from Florida and Hispanic Patients from Puerto Rico and Florida.Cancer research communications · 2025Article
- Genomic Landscape of Breast Cancer: Study Across Diverse Ethnic Groups.Diseases (Basel, Switzerland) · 2025Article
- Proteome-Wide Assessment of Clustering of Missense Variants in Neurodevelopmental Disorders Versus Cancer.medRxiv : the preprint server for health sciences · 2024Article
- The somatic mutation profile of estrogen receptor-positive HER2-negative metastatic breast cancer in Brazilian patients.Frontiers in oncology · 2024Article
- Association ofmedRxiv : the preprint server for health sciences · 2023Article
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20 authors at 11 institutions in 2 countries.
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Abstract
Somatic mutational profiling is increasingly being used to identify potential targets for breast cancer. However, limited tumor-sequencing data from Hispanic/Latinas (H/L) are available to guide treatment. To address this gap, we performed whole-exome sequencing (WES) and RNA sequencing on 146 tumors and WES of matched germline DNA from 140 H/L women in California. Tumor intrinsic subtype, somatic mutations, copy-number alterations, and expression profiles of the tumors were characterized and compared with data from tumors of non-Hispanic White (White) women in The Cancer Genome Atlas (TCGA). Eight genes were significantly mutated in the H/L tumors including PIK3CA, TP53, GATA3, MAP3K1, CDH1, CBFB, PTEN, and RUNX1; the prevalence of mutations in these genes was similar to that observed in White women in TCGA. Four previously reported Catalogue of Somatic Mutations in Cancer (COSMIC) mutation signatures (1, 2, 3, 13) were found in the H/L dataset, along with signature 16 that has not been previously reported in other breast cancer datasets. Recurrent amplifications were observed in breast cancer drivers including MYC, FGFR1, CCND1, and ERBB2, as well as a recurrent amplification in 17q11.2 associated with high KIAA0100 gene expression that has been implicated in breast cancer aggressiveness. In conclusion, this study identified a higher prevalence of COSMIC signature 16 and a recurrent copy-number amplification affecting expression of KIAA0100 in breast tumors from H/L compared with White women. These results highlight the necessity of studying underrepresented populations. SIGNIFICANCE: Comprehensive characterization of genomic and transcriptomic alterations in breast tumors from Hispanic/Latina patients reveals distinct genetic alterations and signatures, demonstrating the importance of inclusive studies to ensure equitable care for patients. See related commentary by Schmit et al., p. 2443.
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