ArticleNature genetics2024
Luminal breast epithelial cells of BRCA1 or BRCA2 mutation carriers and noncarriers harbor common breast cancer copy number alterations.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2026Guideline
- A guide to understanding tumour evolution through the lens of population genetics.Nature reviews. Cancer · 2026Review
- A single-cell lens into the co-evolution of genotypes and phenotypes in cancer.Nature reviews. Cancer · 2026Review
- Spatial Integration of Protein and Chromosomal States Reveals Early Copy-Number Changes and Genotype-Associated Immune Neighborhoods in Serous Ovarian Cancer Evolution.Cancer discovery · 2026Article
- Stem cells as an essential mediator of the exercise-tumorigenesis link.Nature reviews. Cancer · 2026Review
- Tissue-Specific Prevalence and Clonal Architecture ofbioRxiv : the preprint server for biology · 2026Article
- Single-cell technologies drive mechanistic insights and therapeutic translation in skeletal system research.iScience · 2026Review
- Cellular and spatial remodeling of aging breast tissue revealed.Nature aging · 2026Article
- Somatic mutations and clonal evolution in normal tissues and cancer development.Experimental & molecular medicine · 2026Review
- Single-cell spatial atlas of the aging human breast.Nature aging · 2026Article
- Review
- BMI and Breast Subcutaneous Fat: Potential Indicators for Ultrasound Diagnosis of Breast Cancer?Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2026Article
- Quantifying rate-limiting genetic variation in breast and ovarian tumourigenesis.EBioMedicine · 2026Article
- Evidence that extra copies of chromosome 1q play a role in the early phases of pancreatic neoplasia.Science advances · 2026Article
- Of Barriers and Loops-How Evolution Limits Most Cancer Risks to Older Ages.Cancer discovery · 2026Review
- Article
- Absolute copy number aware CNV calling of sub-megabase segments in ultra-low coverage single-cell DNA sequencing data.Nucleic acids research · 2025Article
- Epigenomic disorder and partial EMT impair luminal progenitor integrity in Brca1-associated breast tumorigenesis.Molecular cancer · 2025Article
- Unraveling the role of withanolides as key modulators in breast cancer mitigation.Molecular biology reports · 2025Review
- Thirty Years of BRCA1: Mechanistic Insights and Their Impact on Mutation Carriers.Cancer discovery · 2025Review
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25 authors.
Funding
Abstract
The prevalence and nature of somatic copy number alterations (CNAs) in breast epithelium and their role in tumor initiation and evolution remain poorly understood. Using single-cell DNA sequencing (49,238 cells) of epithelium from BRCA1 and BRCA2 carriers or wild-type individuals, we identified recurrent CNAs (for example, 1q-gain and 7q, 10q, 16q and 22q-loss) that are present in a rare population of cells across almost all samples (n = 28). In BRCA1/BRCA2 carriers, these occur before loss of heterozygosity (LOH) of wild-type alleles. These CNAs, common in malignant tumors, are enriched in luminal cells but absent in basal myoepithelial cells. Allele-specific analysis of prevalent CNAs reveals that they arose by independent mutational events, consistent with convergent evolution. BRCA1/BRCA2 carriers contained a small percentage of cells with extreme aneuploidy, featuring loss of TP53, BRCA1/BRCA2 LOH and multiple breast cancer-associated CNAs. Our findings suggest that CNAs arising in normal luminal breast epithelium are precursors to clonally expanded tumor genomes.
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