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: S1457A

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Npj Genomic Medicine

Iversen, Edwin S ES; Lipton, Gary G; Hart, Steven N SN; Lee, Kun Y KY; Hu, Chunling C; Polley, Eric C EC; Pesaran, Tina T; Yussuf, Amal A; LaDuca, Holly H; Chao, Elizabeth E; Karam, Rachid R; Goldgar, David E DE; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA

Publication Date: 2022-06-03

Variant appearance in text: BRCA1: S1457A

PubMed Link: 35665744

Variant Present in the following documents:

• 41525_2022_302_MOESM3_ESM.xlsx, sheet 1
• 41525_2022_302_MOESM3_ESM.xlsx, sheet 5
• 41525_2022_Article_302.pdf

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: BRCA1: S1457A

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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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: 4369T>G; Ser1457Ala

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: S1457A

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Unsolved mystery: the role of BRCA1 in DNA end-joining.

Journal Of Radiation Research

Saha, Janapriya J; Davis, Anthony J AJ

Publication Date: 2016-08

Variant appearance in text: BRCA1: S1457A

PubMed Link: 27170701

Variant Present in the following documents:

• Main text
• rrw032.pdf

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Mutation of the BRCA1 SQ-cluster results in aberrant mitosis, reduced homologous recombination, and a compensatory increase in non-homologous end joining.

Oncotarget

Beckta, Jason M JM; Dever, Seth M SM; Gnawali, Nisha N; Khalil, Ashraf A; Sule, Amrita A; Golding, Sarah E SE; Rosenberg, Elizabeth E; Narayanan, Aarthi A; Kehn-Hall, Kylene K; Xu, Bo B; Povirk, Lawrence F LF; Valerie, Kristoffer K

Publication Date: 2015-09-29

Variant appearance in text: BRCA1: S1457A

PubMed Link: 26320175

Variant Present in the following documents:

• Main text

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BRCA1 functions as a novel transcriptional cofactor in HIV-1 infection.

Virology Journal

Guendel, Irene I; Meltzer, Beatrix W BW; Baer, Alan A; Dever, Seth M SM; Valerie, Kristoffer K; Guo, Jia J; Wu, Yuntao Y; Kehn-Hall, Kylene K

Publication Date: 2015-03-06

Variant appearance in text: BRCA1: S1457A

PubMed Link: 25879655

Variant Present in the following documents:

• Main text
• 12985_2015_Article_266.pdf

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Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

Plos One

Carvalho, Renato S RS; Abreu, Renata B V RB; Velkova, Aneliya A; Marsillac, Sylvia S; Rodarte, Renato S RS; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Monteiro, Alvaro N A AN; Carvalho, Marcelo A MA

Publication Date: 2014

Variant appearance in text: BRCA1: S1457A

PubMed Link: 24845084

Variant Present in the following documents:

• Main text
• pone.0097766.pdf

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Low concentrations of diindolylmethane, a metabolite of indole-3-carbinol, protect against oxidative stress in a BRCA1-dependent manner.

Cancer Research

Fan, Saijun S; Meng, Qinghui Q; Saha, Tapas T; Sarkar, Fazlul H FH; Rosen, Eliot M EM

Publication Date: 2009-08-01

Variant appearance in text: BRCA1: S1457A

PubMed Link: 19622773

Variant Present in the following documents:

• Main text

View BVdb publication page

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