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: K1984N

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: 5952A>T; Lys1984Asn

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: K1984N

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Germline mutations predisposing to diffuse large B-cell lymphoma.

Blood Cancer Journal

Leeksma, O C OC; de Miranda, N F NF; Veelken, H H

Publication Date: 2017-02-17

Variant appearance in text: BRCA2: K1984N

PubMed Link: 28211887

Variant Present in the following documents:

• Main text

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DNA repair genes are selectively mutated in diffuse large B cell lymphomas.

The Journal Of Experimental Medicine

de Miranda, Noel F C C NF; Peng, Roujun R; Georgiou, Konstantinos K; Wu, Chenglin C; Falk Sörqvist, Elin E; Berglund, Mattias M; Chen, Longyun L; Gao, Zhibo Z; Lagerstedt, Kristina K; Lisboa, Susana S; Roos, Fredrik F; van Wezel, Tom T; Teixeira, Manuel R MR; Rosenquist, Richard R; Sundström, Christer C; Enblad, Gunilla G; Nilsson, Mats M; Zeng, Yixin Y; Kipling, David D; Pan-Hammarström, Qiang Q

Publication Date: 2013-08-26

Variant appearance in text: BRCA2: K1984N

PubMed Link: 23960188

Variant Present in the following documents:

• supp_jem.20122842_JEM_20122842_sm.pdf

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