Publications:

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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: BRCA1: N13K

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

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

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: BRCA1: 39T>A; Asn13Lys

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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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: BRCA1: 39T>A; Asn13Lys

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Analysis of gene expression signatures identifies prognostic and functionally distinct ovarian clear cell carcinoma subtypes.

Ebiomedicine

Tan, Tuan Zea TZ; Ye, Jieru J; Yee, Chung Vin CV; Lim, Diana D; Ngoi, Natalie Yan Li NYL; Tan, David Shao Peng DSP; Huang, Ruby Yun-Ju RY

Publication Date: 2019-12

Variant appearance in text: BRCA1: 39T>A; N13K

PubMed Link: 31761620

Variant Present in the following documents:

• mmc1.xlsx, sheet 8

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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 39T>A; N13K

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.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: BRCA1: N13K

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Preclinical evaluation of the PARP inhibitor BMN-673 for the treatment of ovarian clear cell cancer.

Oncotarget

Wilkerson, Paul M PM; Dedes, Konstantin J KJ; Samartzis, Eleftherios Pierre EP; Dedes, Ioannis I; Lambros, Maryou B MB; Natrajan, Rachael R; Gauthier, Arnaud A; Piscuoglio, Salvatore S; Töpfer, Chantal C; Vukovic, Vesna V; Daley, Frances F; Weigelt, Britta B; Reis-Filho, Jorge S JS

Publication Date: 2017-01-24

Variant appearance in text: BRCA1: 39T>A

PubMed Link: 28002809

Variant Present in the following documents:

• oncotarget-08-6057-s001.pdf

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Therapeutic potential of the poly(ADP-ribose) polymerase inhibitor rucaparib for the treatment of sporadic human ovarian cancer.

Molecular Cancer Therapeutics

Ihnen, Maike M; zu Eulenburg, Christine C; Kolarova, Teodora T; Qi, Jing Wei JW; Manivong, Kanthinh K; Chalukya, Meenal M; Dering, Judy J; Anderson, Lee L; Ginther, Charles C; Meuter, Alexandra A; Winterhoff, Boris B; Jones, Siân S; Velculescu, Victor E VE; Venkatesan, Natarajan N; Rong, Hong-Mei HM; Dandekar, Sugandha S; Udar, Nitin N; Jänicke, Fritz F; Los, Gerrit G; Slamon, Dennis J DJ; Konecny, Gottfried E GE

Publication Date: 2013-06

Variant appearance in text: BRCA1: 39T>A; N13K

PubMed Link: 23729402

Variant Present in the following documents:

• Main text

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