Jeffrey Marks

In mammography and tomosynthesis, radiologists use the geometric relationship of the four standard screening views to detect breast abnormalities. To date, computer aided detection methods focus on formulations based only on a single view. Recent multi-view methods are either black box approaches using methods such as relation blocks, or perform extensive, case-level feature aggregation requiring large data redundancy. In this study, we propose Retina-Match, an end-to-end trainable pipeline for detection, matching, and refinement that can effectively perform ipsilateral lesion matching in paired screening mammography images. We demonstrate effectiveness on a private, digital mammography data set with 1,016 biopsied lesions and 2,000 negative cases.

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale^1-3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter⁴; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation^5,6; analyses timings and patterns of tumour evolution⁷; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity^8,9; and evaluates a range of more-specialized features of cancer genomes^8,10-18.

Detecting microcalcification clusters in mammograms is important to the diagnosis of breast diseases. Previous studies which mainly focused on supervised methods require abundant annotated training data but these data are usually hard to acquire. In this work, we leverage unsupervised convolutional autoencoders and structural similarity (SSIM) based post-processing to detect and localize microcalcification clusters in full-field digital mammograms (FFDMs). Our models were trained by patches extracted from 3,632 normal cases, in total with 16,702 mammograms. Evaluations were conducted in three aspects, including patch-based anomaly detection, pixel-wise microcalcification localization, and microcalcification cluster detection. Specifically, the receiver operating characteristic (ROC) analysis was used for patch-based anomaly detection. Then, a pixel-wise ROC analysis and a cluster-based free-response ROC (FROC) analysis were performed to assess our detection algorithms of individual microcalcifications and microcalcification clusters, respectively. We achieved a pixel-wise AUC of 0.97 as well as a cluster-based sensitivity of 0.62 at 1 false positive per image and 0.75 at 2.5 false positives per image. Both qualitative and quantitative results demonstrated the effectiveness of our method.