ArticleCancer reports (Hoboken, N.J.)2020
Comparable cancer-relevant mutation profiles in synchronous ductal carcinoma in situ and invasive breast cancer.
Article in Cancer reports (Hoboken, N.J.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- DCIS Progression and the Tumor Microenvironment: Molecular Insights and Prognostic Challenges.Cancers · 2025Review
- Progression from ductal carcinoma in situ to invasive breast cancer: molecular features and clinical significance.Signal transduction and targeted therapy · 2024Review
- The most likely but largely ignored triggering factor for breast (or all) cancer invasion.Journal of Cancer · 2023Article
- An update on intraductal and intralobular proliferative lesions of the breast.Revista da Associacao Medica Brasileira (1992) · 2023Article
- Is loss of p53 a driver of ductal carcinoma in situ progression?British journal of cancer · 2022Review
- Insights into the transition of ductal carcinomaCancer biology & medicine · 2022Article
- Comparable cancer-relevant mutation profiles in synchronous ductal carcinoma in situ and invasive breast cancer.Cancer reports (Hoboken, N.J.) · 2020Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuctal carcinoma in situ (DCIS) comprises a diverse group of preinvasive lesions in the breast and poses a considerable clinical challenge due to lack of markers of progression. Genomic alterations are to a large extent similar in DCIS and invasive carcinomas, although differences in copy number aberrations, gene expression patterns, and mutations exist. In mixed tumors with synchronous invasive breast cancer (IBC) and DCIS, it is still unclear to what extent invasive tumor cells are directly derived from the DCIS cells.
aimOur aim was to compare cancer-relevant mutation profiles of different cellular compartments in mixed DCIS/IBC and pure DCIS tumors. METHODS AND
resultsWe performed targeted sequencing of 50 oncogenes in microdissected tissue from three different epithelial cell compartments (in situ, invasive, and normal adjacent epithelium) from 26 mixed breast carcinomas. In total, 44 tissue samples (19 invasive, 16 in situ, 9 normal) were subjected to sequencing using the Ion Torrent platform and the AmpliSeq Cancer Hotspot Panel v2. For comparison, 10 additional, pure DCIS lesions were sequenced. Across all mixed samples, we detected 23 variants previously described in cancer. The most commonly affected genes were TP53, PIK3CA, and ERBB2. The PIK3CA:p.H1047R variant was found in nine samples from six patients. Most variants detected in invasive compartments were also found in the corresponding in situ cell compartment indicating a clonal relationship between the tumor stages. A lower frequency of variants were observed in pure DCIS lesions.
conclusionSimilar mutation profiles between in situ and invasive cell compartments indicate a similar origin of the two tumor stages in mixed breast tumors. The lower number of potential driver variants found in pure DCIS compared with the in situ cell compartments of mixed tumors may imply that pure DCIS is captured earlier in the path of progression to invasive disease.
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