Colin C. Pritchard
University of Washington
Publications 161
#1Elisa M. Ledet (Tulane University)H-Index: 10
#2Emmanuel S. Antonarakis (Johns Hopkins University)H-Index: 29
Last.A. Oliver Sartor (Tulane University)H-Index: 19
view all 6 authors...
#1Jennifer N. Dines (UW: University of Washington)H-Index: 4
#2Brian H. Shirts (UW: University of Washington)H-Index: 24
Last.Colin C. Pritchard (UW: University of Washington)H-Index: 35
view all 7 authors...
Guidelines for variant interpretation incorporate variant hotspots in critical functional domains as evidence for pathogenicity (e.g., PM1 and PP2), but do not use “coldspots,” that is, regions without essential functions that tolerate variation, as evidence a variant is benign. To improve variant classification we evaluated BRCA1 and BRCA2 missense variants reported in ClinVar to identify regions where pathogenic missenses are extremely infrequent, defined as coldspots. We used Bayesian approac...
#1Silvia Casadei (UW: University of Washington)H-Index: 17
#2Suleyman Gulsuner (UW: University of Washington)H-Index: 15
Last.Thomas J. Walsh (UW: University of Washington)H-Index: 133
view all 14 authors...
Mutations responsible for inherited disease may act by disrupting normal transcriptional splicing. Such mutations can be difficult to detect, and their effects difficult to characterize, because many lie deep within exons or introns where they may alter splice enhancers or silencers or introduce new splice acceptors or donors. Multiple mutation-specific and genome-wide approaches have been developed to evaluate these classes of mutations. We introduce a complementary experimental approach, cBROC...
#1Soledad Jorge (UW: University of Washington)
#2Andrew S. McFaddin (UW: University of Washington)H-Index: 1
Last.Elizabeth M. Swisher (UW: University of Washington)H-Index: 57
view all 8 authors...
Abstract Objective Germline and somatic BRCA1 and BRCA2 (BRCA) mutations predict treatment response in patients with epithelial ovarian, peritoneal or fallopian tube cancer (OC), yet only germline testing is routinely pursued or reimbursed at diagnosis. We report our experience with clinical testing of paired tumor and germline DNA for OC mutations. Methods Simultaneous sequencing using the BROCA assay of DNA from paired blood and neoplastic tissue became clinically available at our institution ...
#1Wei Chen (The Ohio State University Wexner Medical Center)H-Index: 7
#2Rachel Pearlman (The Ohio State University Wexner Medical Center)H-Index: 9
Last.Wendy L. Frankel (The Ohio State University Wexner Medical Center)H-Index: 46
view all 8 authors...
Summary Mismatch repair protein (MMR) immunohistochemistry is an important tool in screening for Lynch syndrome in colorectal cancer patients. Unusual staining patterns such as heterogeneous MSH6 staining have been reported in colorectal and endometrial cancers. We aim to better understand MSH6 staining heterogeneity in colorectal cancer by comparative sequencing of different tumor areas for MMR and DNA polymerase mutations. Whole section slides of 1754 colorectal cancers were reviewed for heter...
#1Angela Steineck (Seattle Children's)
#2Niklas Krumm (UW: University of Washington)H-Index: 16
Last.Bonnie Cole (UW: University of Washington)H-Index: 5
view all 8 authors...
#1Erica K. Barnell (WashU: Washington University in St. Louis)H-Index: 5
#2Adam Waalkes (UW: University of Washington)H-Index: 7
Last.Obi L. Griffith (WashU: Washington University in St. Louis)H-Index: 40
view all 19 authors...
PURPOSE Clinical targeted sequencing panels are important for identifying actionable variants for patients with cancer; however, existing approaches do not provide transparent and rationally design...
#1Pedro Isaacsson Velho (Johns Hopkins University)H-Index: 3
#2David Lim (Johns Hopkins University)
Last.Tamara L. Lotan (Johns Hopkins University)H-Index: 28
view all 14 authors...
PurposeVery high-risk prostate cancer (PC) is associated with poor response to local and systemic treatments; however, few cases have been molecularly profiled. We studied clinical outcomes and mol...
3 CitationsSource
#1Francesca Khani (Cornell University)H-Index: 9
#2Sara E. Wobker (UNC: University of North Carolina at Chapel Hill)H-Index: 10
Last.Tamara L. Lotan (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 28
view all 9 authors...