ArticleGenome research2015
Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer.
Article in Genome research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 33 citations in OpenAlex.
- Coexisting genomic aberrations associated with lymph node metastasis in breast cancer.The Journal of clinical investigation · 2018Trial
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- Margin of Error: The Emerging Role of Field Cancerization in Predicting Recurrence Risk of Ductal Carcinoma In Situ.International journal of molecular sciences · 2026Review
- Recent Insights Into Breast Cancer: Molecular Pathways, Epigenetic Regulation, and Emerging Targeted Therapies.Breast cancer : basic and clinical research · 2025Review
- Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions.American journal of human genetics · 2024Article
- Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.NPJ breast cancer · 2024Article
- Extracellular Microenvironment Alterations in Ductal Carcinoma In Situ and Invasive Breast Cancer Pathologies by Multiplexed Spatial Proteomics.International journal of molecular sciences · 2024Article
- Tumor Predisposing Post-Zygotic Chromosomal Alterations in Bladder Cancer-Insights from Histologically Normal Urothelium.Cancers · 2024Article
- Field cancerization in breast cancer.The Journal of pathology · 2022Review
- High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.NPJ breast cancer · 2022Article
- Article
- Are Gastric and Esophageal Metaplasia Relatives? The Case for Barrett's Stemming from SPEM.Digestive diseases and sciences · 2018Review
- Atypical ductal hyperplasia: update on diagnosis, management, and molecular landscape.Breast cancer research : BCR · 2018Review
- Detection of clinically relevant copy number alterations in oral cancer progression using multiplexed droplet digital PCR.Scientific reports · 2017Article
- Evolutionary dynamics in pre-invasive neoplasia.Current opinion in systems biology · 2017Article
- The ageing genome, clonal mosaicism and chronic disease.Current opinion in genetics & development · 2017Review
- Mosaicism in health and disease - clones picking up speed.Nature reviews. Genetics · 2017Review
- Genome evolution in ductal carcinoma in situ: invasion of the clones.The Journal of pathology · 2017Review
- ESM1 mediates NGFR-induced invasion and metastasis in murine oral squamous cell carcinoma.Oncotarget · 2016Article
- Pitfalls of improperly procured adjacent non-neoplastic tissue for somatic mutation analysis using next-generation sequencing.BMC medical genomics · 2016Article
Corrections and comments
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Authors and funding
30 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sporadic breast cancer (SBC) is a common disease without robust means of early risk prediction in the population. We studied 282 females with SBC, focusing on copy number aberrations in cancer-free breast tissue (uninvolved margin, UM) outside the primary tumor (PT). In total, 1162 UMs (1-14 per breast) were studied. Comparative analysis between UM(s), PT(s), and blood/skin from the same patient as a control is the core of the study design. We identified 108 patients with at least one aberrant UM, representing 38.3% of cases. Gains in gene copy number were the principal type of mutations in microscopically normal breast cells, suggesting that oncogenic activation of genes via increased gene copy number is a predominant mechanism for initiation of SBC pathogenesis. The gain of ERBB2, with overexpression of HER2 protein, was the most common aberration in normal cells. Five additional growth factor receptor genes (EGFR, FGFR1, IGF1R, LIFR, and NGFR) also showed recurrent gains, and these were occasionally present in combination with the gain of ERBB2. All the aberrations found in the normal breast cells were previously described in cancer literature, suggesting their causative, driving role in pathogenesis of SBC. We demonstrate that analysis of normal cells from cancer patients leads to identification of signatures that may increase risk of SBC and our results could influence the choice of surgical intervention to remove all predisposing cells. Early detection of copy number gains suggesting a predisposition toward cancer development, long before detectable tumors are formed, is a key to the anticipated shift into a preventive paradigm of personalized medicine for breast cancer.
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