Supplementary Figures 1 - 6, Tables 1 - 2 from A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer
Year: 2023
Type: supplementary-materials
Abstract: Supplementary Figure 1. Electropherogram. Supplementary Figure 2. Ramachandran plot. Supplementary Figure 3. Modeling ERCC3 R109X via CRISPR/Cas9 genome editing. Supplementary Figure 4. Haplotype analyses from the TAGC heterozygote carriers. Supplementary Figure 5. ERCC3 mutations present in the cBioPortal (MSKCC) datasets. Supplementary Figure 6. ERCC3 transcript levels in patient derived whole blood. Supplementary Table 1. Family history and pathology information on R109X carriers. Supplementary Table 2. Identity of mutations in HMLE cell lines generated by CRISPR/Cas9.
Authors: Joseph Vijai, Sabine Topka, Danylo Villano, Vignesh Ravichandran, Kara N. Maxwell, Ann Maria, Tinu Thomas, Pragna Gaddam, Anne Lincoln, Sarah Kazzaz, Brandon Wenz, Shai Carmi, Kasmintan A. Schrader, Steven N. Hart, Steve M. Lipkin, Susan L. Neuhausen, Michael F. Walsh, Liying Zhang, Flavio Lejbkowicz, Hedy Rennert, Zsofia K. Stadler, Mark Robson, Jeffrey N. Weitzel, Mark J. Daly, Fergus J. Couch, Katherine L. Nathanson, Larry Norton, Gad Rennert, Kenneth Offit
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W4362531355