ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2017
Breast ductal carcinoma in situ carry mutational driver events representative of invasive breast cancer.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 65 citations in OpenAlex.
- Functional germline variants together with somatic mutations alter the integrity of cancer hallmark regulatory networks.Genome medicine · 2026Article
- Spatial proteomics of breast ductal carcinoma in situ reveal distinct regional differences.Scientific reports · 2026Article
- Elucidating cooperative genetic events in DCIS progression in mutantProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression.The Journal of pathology · 2026Article
- Circulating tumor cells as predictive biomarkers in the risk stratification of DCIS: Evidence of early dissemination.Science advances · 2025Article
- Prediction of upstaging in DCIS: the dominant role of pathological over imaging risk factors.Breast cancer research and treatment · 2025Article
- Mutational landscape of pure ductal carcinoma in situ and associations with disease prognosis and response to radiotherapy.Breast cancer research : BCR · 2025Article
- DCIS Progression and the Tumor Microenvironment: Molecular Insights and Prognostic Challenges.Cancers · 2025Review
- Multi-omics portrait of ductal carcinoma in situ in young women.Breast cancer research and treatment · 2024Article
- Progression from ductal carcinoma in situ to invasive breast cancer: molecular features and clinical significance.Signal transduction and targeted therapy · 2024Review
- Should low-risk DCIS lose the cancer label? An evidence review.Breast cancer research and treatment · 2023Review
- A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.Cancer cell · 2023Article
- Clinical Implications of APOBEC3-Mediated Mutagenesis in Breast Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Review
- Unravelling the clinicopathological and functional significance of replication protein A (RPA) heterotrimeric complex in breast cancers.NPJ breast cancer · 2023Article
- Identifying recurrences and metastasis after ductal carcinoma in situ (DCIS) of the breast.Histopathology · 2023Review
- A Non-Invasive Deep Photoablation Technique to Inhibit DCIS Progression and Induce Antitumor Immunity.Cancers · 2022Article
- Is loss of p53 a driver of ductal carcinoma in situ progression?British journal of cancer · 2022Review
- Investigating the potential clinical significance of long non-coding RNA 00092 in patients with breast cancer.Annals of translational medicine · 2022Article
- The breast pre-cancer atlas illustrates the molecular and micro-environmental diversity of ductal carcinoma in situ.NPJ breast cancer · 2022Article
- Experiments from unfinished Registered Reports in the Reproducibility Project: Cancer Biology.eLife · 2021Article
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Authors and funding
21 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The spectrum of genomic alterations in ductal carcinoma in situ (DCIS) is relatively unexplored, but is likely to provide useful insights into its biology, its progression to invasive carcinoma and the risk of recurrence. DCIS (n=20) with a range of phenotypes was assessed by massively parallel sequencing for mutations and copy number alterations and variants validated by Sanger sequencing. PIK3CA mutations were identified in 11/20 (55%), TP53 mutations in 6/20 (30%), and GATA3 mutations in 9/20 (45%). Screening an additional 91 cases for GATA3 mutations identified a final frequency of 27% (30/111), with a high proportion of missense variants (8/30). TP53 mutations were exclusive to high grade DCIS and more frequent in PR-negative tumors compared with PR-positive tumors (P=0.037). TP53 mutant tumors also had a significantly higher fraction of the genome altered by copy number than wild-type tumors (P=0.005), including a significant positive association with amplification or gain of ERBB2 (P<0.05). The association between TP53 mutation and ERBB2 amplification was confirmed in a wider DCIS cohort using p53 immunohistochemistry as a surrogate marker for TP53 mutations (P=0.03). RUNX1 mutations and MAP2K4 copy number loss were novel findings in DCIS. Frequent copy number alterations included gains on 1q, 8q, 17q, and 20q and losses on 8p, 11q, 16q, and 17p. Patterns of genomic alterations observed in DCIS were similar to those previously reported for invasive breast cancers, with all DCIS having at least one bona fide breast cancer driver event. However, an increase in GATA3 mutations and fewer copy number changes were noted in DCIS compared with invasive carcinomas. The role of such alterations as prognostic and predictive biomarkers in DCIS is an avenue for further investigation.
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