Publications:

Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: BRCA2: 4656T>C; rs41293491

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: BRCA2: 4656T>C

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA2: 4656T>C; Gly1552=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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OutLyzer: software for extracting low-allele-frequency tumor mutations from sequencing background noise in clinical practice.

Oncotarget

Muller, Etienne E; Goardon, Nicolas N; Brault, Baptiste B; Rousselin, Antoine A; Paimparay, Germain G; Legros, Angelina A; Fouillet, Robin R; Bruet, Olivia O; Tranchant, Aurore A; Domin, Florian F; San, Chankannira C; Quesnelle, Céline C; Frebourg, Thierry T; Ricou, Agathe A; Krieger, Sophie S; Vaur, Dominique D; Castera, Laurent L

Publication Date: 2016-11-29

Variant appearance in text: BRCA2: 4656T>C

PubMed Link: 27825131

Variant Present in the following documents:

• oncotarget-07-79485-s002.pdf

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Spatial and temporal heterogeneity in high-grade serous ovarian cancer: a phylogenetic analysis.

Plos Medicine

Schwarz, Roland F RF; Ng, Charlotte K Y CK; Cooke, Susanna L SL; Newman, Scott S; Temple, Jillian J; Piskorz, Anna M AM; Gale, Davina D; Sayal, Karen K; Murtaza, Muhammed M; Baldwin, Peter J PJ; Rosenfeld, Nitzan N; Earl, Helena M HM; Sala, Evis E; Jimenez-Linan, Mercedes M; Parkinson, Christine A CA; Markowetz, Florian F; Brenton, James D JD

Publication Date: 2015-02

Variant appearance in text: BRCA2: G1552G

PubMed Link: 25710373

Variant Present in the following documents:

• Main text
• pmed.1001789.pdf

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