Selection and evolution in the genomic landscape of copy number alterations in ductal carcinoma in situ (DCIS) and its progression to invasive carcinoma of ductal/no special type: a meta-analysis

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• 作者：Swapnil Ulhas Rane ; Hasan Mirza ; Anita Grigoriadis…
• 关键词：DCIS ; Cytogenetic aberrations ; Invasive ductal carcinoma ; breast ; Biology ; computational
• 刊名：Breast Cancer Research and Treatment
• 出版年：2015
• 出版时间：August 2015
• 年：2015
• 卷：153
• 期：1
• 页码：101-121
• 全文大小：2,607 KB
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• 作者单位：Swapnil Ulhas Rane (1) (2) (3)
  Hasan Mirza (1) (4)
  Anita Grigoriadis (1) (4)
  Sarah E. Pinder (1) (2)
  
  1. Department of Research Oncology, King’s Health Partners AHSC, King’s College London, London, UK
  2. Breast Tissue and Data Bank, King’s Health Partners AHSC, King’s College London, London, UK
  3. Department of Pathology, Tata Memorial Centre, Tata Memorial Hospital, 8th Floor, Annexe Building, Mumbai, India
  4. Breast Cancer Now, King’s College London, London, UK
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Oncology
  
• 出版者：Springer Netherlands
• ISSN：1573-7217

文摘

Ductal carcinoma in situ (DCIS) is a pre-invasive malignancy detected with an increasing frequency through screening mammography. One of the primary aims of therapy is to prevent local recurrence, as in situ or as invasive carcinoma, the latter arising in half of the recurrent cases. Reliable biomarkers predictive of its association with recurrence, particularly as invasive disease, are however lacking. In this study, we perform a meta-analysis of 26 studies which report somatic copy number aberrations (SCNAs) in 288 cases of ‘pure-DCIS and 328 of DCIS associated with invasive carcinoma, along with additional unmatched cases of 145 invasive carcinoma of ductal/no special type (IDC) and 50 of atypical ductal hyperplasia (ADH). SCNA frequencies across the genome were calculated at cytoband resolution (UCSC genome build 19) to maximally utilize the available information in published literature. Fisher’s exact test was used to identify significant differences in the gain–loss distribution in each cytoband in different group comparisons. We found synchronous DCIS to be at a more advanced stage of genetic aberrations than pure DCIS and was very similar to IDC. Differences in gains and losses in each disease process (i.e. invasive or in situ) at each cytoband were used to infer evidence of selection and conservation for each cytoband and to define an evolutionary conservation scale (ECS) as a tool to identify and distinguish driver SCNA from the passenger SCNA. Using ECS, we have identified aberrations that show evidence of selection from the early stages of neoplasia (i.e. in ADH and pure DCIS) and persist in IDC; we postulate these to be driver aberrations and that their presence may predict progression to invasive disease.