Publications:

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA1: 4825G>T; Glu1609X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: BRCA1: E1609*

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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Somatic mutations in BRCA1 and BRCA2 could expand the number of patients that benefit from poly (ADP ribose) polymerase inhibitors in ovarian cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Hennessy, Bryan T J BT; Timms, Kirsten M KM; Carey, Mark S MS; Gutin, Alexander A; Meyer, Larissa A LA; Flake, Darl D DD; Abkevich, Victor V; Potter, Jennifer J; Pruss, Dmitry D; Glenn, Pat P; Li, Yang Y; Li, Jie J; Gonzalez-Angulo, Ana Maria AM; McCune, Karen Smith KS; Markman, Maurie M; Broaddus, Russell R RR; Lanchbury, Jerry S JS; Lu, Karen H KH; Mills, Gordon B GB

Publication Date: 2010-08-01

Variant appearance in text: BRCA1: E1609X

PubMed Link: 20606085

Variant Present in the following documents:

• Main text

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