Publications:

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports

Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB

Publication Date: 2022-06-21

Variant appearance in text: BRCA2: S1682G

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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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: BRCA2: 5044A>G; Ser1682Gly

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

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

Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ

Publication Date: 2019-01

Variant appearance in text: BRCA2: S1682G

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: BRCA2: 5044A>G; S1682G

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Genome Modeling System: A Knowledge Management Platform for Genomics.

Plos Computational Biology

Griffith, Malachi M; Griffith, Obi L OL; Smith, Scott M SM; Ramu, Avinash A; Callaway, Matthew B MB; Brummett, Anthony M AM; Kiwala, Michael J MJ; Coffman, Adam C AC; Regier, Allison A AA; Oberkfell, Ben J BJ; Sanderson, Gabriel E GE; Mooney, Thomas P TP; Nutter, Nathaniel G NG; Belter, Edward A EA; Du, Feiyu F; Long, Robert L RL; Abbott, Travis E TE; Ferguson, Ian T IT; Morton, David L DL; Burnett, Mark M MM; Weible, James V JV; Peck, Joshua B JB; Dukes, Adam A; McMichael, Joshua F JF; Lolofie, Justin T JT; Derickson, Brian R BR; Hundal, Jasreet J; Skidmore, Zachary L ZL; Ainscough, Benjamin J BJ; Dees, Nathan D ND; Schierding, William S WS; Kandoth, Cyriac C; Kim, Kyung H KH; Lu, Charles C; Harris, Christopher C CC; Maher, Nicole N; Maher, Christopher A CA; Magrini, Vincent J VJ; Abbott, Benjamin S BS; Chen, Ken K; Clark, Eric E; Das, Indraniel I; Fan, Xian X; Hawkins, Amy E AE; Hepler, Todd G TG; Wylie, Todd N TN; Leonard, Shawn M SM; Schroeder, William E WE; Shi, Xiaoqi X; Carmichael, Lynn K LK; Weil, Matthew R MR; Wohlstadter, Richard W RW; Stiehr, Gary G; McLellan, Michael D MD; Pohl, Craig S CS; Miller, Christopher A CA; Koboldt, Daniel C DC; Walker, Jason R JR; Eldred, James M JM; Larson, David E DE; Dooling, David J DJ; Ding, Li L; Mardis, Elaine R ER; Wilson, Richard K RK

Publication Date: 2015-07

Variant appearance in text: BRCA2: S1682G

PubMed Link: 26158448

Variant Present in the following documents:

• pcbi.1004274.s006.pdf

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