Publications:

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Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 67G>A; Glu23Lys

PubMed Link: 36385461

Variant Present in the following documents:

• Main text
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s001.xlsx, sheet 1
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159.pdf
• IJC-152-1159-s003.xlsx, sheet 1

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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: E23K

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: BRCA1: 67G>A; Glu23Lys

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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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: 67G>A; E23K

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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The mechanism of ions in pulmonary hypertension.

Pulmonary Circulation

Liu, Guogu G; Fu, Daiyan D; Tian, Heshen H; Dai, Aiguo A

Publication Date: 2021

Variant appearance in text: BRCA1: E23K

PubMed Link: 33614016

Variant Present in the following documents:

• 10.1177_2045894020987948.pdf

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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: 67G>A; Glu23Lys

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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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: BRCA1: E23K

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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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: 67G>A; E23K

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: E23K

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: BRCA1: E23K

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1
• srep31321-s5.xls, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BRCA1: E23K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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ProphNet: a generic prioritization method through propagation of information.

Bmc Bioinformatics

Martínez, Víctor V; Cano, Carlos C; Blanco, Armando A

Publication Date: 2014

Variant appearance in text: BRCA1: E23K

PubMed Link: 24564336

Variant Present in the following documents:

• 1471-2105-15-S1-S5.pdf

View BVdb publication page

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Recent progress in automatically extracting information from the pharmacogenomic literature.

Pharmacogenomics

Garten, Yael Y; Coulet, Adrien A; Altman, Russ B RB

Publication Date: 2010-10

Variant appearance in text: RNF53: E23K

PubMed Link: 21047206

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional single nucleotide polymorphism-based association studies.

Human Genomics

Carlton, Victoria E H VE; Ireland, James S JS; Useche, Francisco F; Faham, Malek M

Publication Date: 2006-06

Variant appearance in text: BRCA1: E23K

PubMed Link: 16848977

Variant Present in the following documents:

• 1479-7364-2-6-391.pdf

View BVdb publication page

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