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: K119R

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: BRCA1: 356A>G; Lys119Arg

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: BRCA1: K119R

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Ring finger protein 126 (RNF126) suppresses ionizing radiation-induced p53-binding protein 1 (53BP1) focus formation.

The Journal Of Biological Chemistry

Lee, Nam Soo NS; Chang, Hae Ryung HR; Kim, Soomi S; Ji, Jae-Hoon JH; Lee, Joorak J; Lee, Hyun Ji HJ; Seo, Yoojeong Y; Kang, Misun M; Han, Joo Seok JS; Myung, Kyungjae K; Kim, Yonghwan Y; Kim, Hongtae H

Publication Date: 2018-01-12

Variant appearance in text: BRCA1: K119R

PubMed Link: 29167269

Variant Present in the following documents:

• Main text
• zbc588.pdf

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Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance.

Elife

Anantha, Rachel W RW; Simhadri, Srilatha S; Foo, Tzeh Keong TK; Miao, Susanna S; Liu, Jingmei J; Shen, Zhiyuan Z; Ganesan, Shridar S; Xia, Bing B

Publication Date: 2017-04-11

Variant appearance in text: BRCA1: K119R

PubMed Link: 28398198

Variant Present in the following documents:

• Main text
• elife-21350-fig2-data1.xlsx, sheet 1
• elife-21350.pdf
• elife-21350-fig3-data1.xlsx, sheet 1
• elife-21350-fig1-data1.xlsx, sheet 1

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BRCA1 is a histone-H2A-specific ubiquitin ligase.

Cell Reports

Kalb, Reinhard R; Mallery, Donna L DL; Larkin, Conor C; Huang, Jeffrey T J JT; Hiom, Kevin K

Publication Date: 2014-08-21

Variant appearance in text: BRCA1: K119R

PubMed Link: 25131202

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

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53BP1 is a reader of the DNA-damage-induced H2A Lys 15 ubiquitin mark.

Nature

Fradet-Turcotte, Amélie A; Canny, Marella D MD; Escribano-Díaz, Cristina C; Orthwein, Alexandre A; Leung, Charles C Y CC; Huang, Hao H; Landry, Marie-Claude MC; Kitevski-LeBlanc, Julianne J; Noordermeer, Sylvie M SM; Sicheri, Frank F; Durocher, Daniel D

Publication Date: 2013-07-04

Variant appearance in text: BRCA1: K119R

PubMed Link: 23760478

Variant Present in the following documents:

• NIHMS3939-supplement-2.pdf

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Human RECQ1 interacts with Ku70/80 and modulates DNA end-joining of double-strand breaks.

Plos One

Parvathaneni, Swetha S; Stortchevoi, Alexei A; Sommers, Joshua A JA; Brosh, Robert M RM; Sharma, Sudha S

Publication Date: 2013

Variant appearance in text: BRCA1: K119R

PubMed Link: 23650516

Variant Present in the following documents:

• Main text

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Connecting the Dots: Interplay between Ubiquitylation and SUMOylation at DNA Double-Strand Breaks.

Genes & Cancer

Tang, Jiang-Bo JB; Greenberg, Roger A RA

Publication Date: 2010-07

Variant appearance in text: BRCA1: K119R

PubMed Link: 21113239

Variant Present in the following documents:

• Main text

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