Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: BRCA1: 5246C>G; P1749R; rs80357462

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 5246C>G; Pro1749Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs80357462

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

View BVdb publication page

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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: 5246C>G; Pro1749Arg; rs80357462

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s011.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 4

View BVdb publication page

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Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Scientific Reports

Nepomuceno, Thales C TC; Dos Santos, Ana P P APP; Fernandes, Vanessa C VC; Elias, Anna B R ABR; Gomes, Thiago T TT; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA

Publication Date: 2022-09-28

Variant appearance in text: BRCA1: P1749R

PubMed Link: 36171434

Variant Present in the following documents:

• 41598_2022_20500_MOESM1_ESM.pdf

View BVdb publication page

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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: P1749R

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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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: P1749R

PubMed Link: 35665744

Variant Present in the following documents:

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

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: BRCA1: 5246C>G; Pro1749Arg

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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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: 5246C>G; P1749R

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: BRCA1: P1749R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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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: 5246C>G; Pro1749Arg; rs80357462

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Application of BERT to Enable Gene Classification Based on Clinical Evidence.

Biomed Research International

Su, Yuhan Y; Xiang, Hongxin H; Xie, Haotian H; Yu, Yong Y; Dong, Shiyan S; Yang, Zhaogang Z; Zhao, Na N

Publication Date: 2020

Variant appearance in text: BRCA1: P1749R

PubMed Link: 33083472

Variant Present in the following documents:

• Main text
• BMRI2020-5491963.pdf

View BVdb publication page

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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: 5246C>G; Pro1749Arg

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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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: BRCA1: P1749R

PubMed Link: 32210335

Variant Present in the following documents:

• 41598_2020_62279_MOESM2_ESM.xlsx, sheet 33

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: BRCA1: P1749R

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

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

Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC

Publication Date: 2020-05

Variant appearance in text: BRCA1: 5246C>G; Pro1749Arg; rs80357462

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
• 41436_2019_740_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Maintenance of pegylated liposomal doxorubicin/carboplatin in patients with advanced ovarian cancer: randomized study of an Asian Gynecologic Oncology Group.

Journal Of Gynecologic Oncology

Lai, Chyong Huey CH; Vallikad, Elizabeth E; Lin, Hao H; Yang, Lan Yan LY; Jung, Shih Ming SM; Liu, Hsueh Erh HE; Ou, Yu Che YC; Chou, Hung Hsueh HH; Lin, Cheng Tao CT; Huang, Huei Jean HJ; Huang, Kuan Gen KG; Qiu, Jiantai J; Hung, Yao Ching YC; Wu, Tzu I TI; Chang, Wei Yang WY; Tan, Kien Thiam KT; Lin, Chiao Yun CY; Chao, Angel A; Chang, Chee Jen CJ

Publication Date: 2020-01

Variant appearance in text: BRCA1: 5246C>G; Pro1749Arg

PubMed Link: 31788995

Variant Present in the following documents:

• Main text
• jgo-31-e5.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: BRCA1: 5246C>G; P1749R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: BRCA1: 5246C>G; Pro1749Arg

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Journal Of Medical Genetics

Fostira, Florentia F; Kostantopoulou, Irene I; Apostolou, Paraskevi P; Papamentzelopoulou, Myrto S MS; Papadimitriou, Christos C; Faliakou, Eleni E; Christodoulou, Christos C; Boukovinas, Ioannis I; Razis, Evangelia E; Tryfonopoulos, Dimitrios D; Barbounis, Vasileios V; Vagena, Andromache A; Vlachos, Ioannis S IS; Kalfakakou, Despoina D; Fountzilas, George G; Yannoukakos, Drakoulis D

Publication Date: 2020-01

Variant appearance in text: BRCA1: 5246C>G; Pro1749Arg

PubMed Link: 31300551

Variant Present in the following documents:

• jmedgenet-2019-106189supp005.pdf
• jmedgenet-2019-106189supp004.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: BRCA1: P1749R; rs80357462

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: BRCA1: 5246C>G; P1749R

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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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: 5246C>G; P1749R

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-3.xlsx, sheet 1
• NIHMS1501643-supplement-2.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: P1749R

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Metabolic Alterations in Cancer Cells and the Emerging Role of Oncometabolites as Drivers of Neoplastic Change.

Antioxidants (Basel, Switzerland)

Zhou, Zhengqiu Z; Ibekwe, Elochukwu E; Chornenkyy, Yevgen Y

Publication Date: 2018-01-17

Variant appearance in text: BRCA1: P1749R

PubMed Link: 29342092

Variant Present in the following documents:

• Main text
• antioxidants-07-00016.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA1: 5246C>G; Pro1749Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Loss of BRCA1 in the Cells of Origin of Ovarian Cancer Induces Glycolysis: A Window of Opportunity for Ovarian Cancer Chemoprevention.

Cancer Prevention Research (Philadelphia, Pa.)

Chiyoda, Tatsuyuki T; Hart, Peter C PC; Eckert, Mark A MA; McGregor, Stephanie M SM; Lastra, Ricardo R RR; Hamamoto, Ryuji R; Nakamura, Yusuke Y; Yamada, S Diane SD; Olopade, Olufunmilayo I OI; Lengyel, Ernst E; Romero, Iris L IL

Publication Date: 2017-04

Variant appearance in text: BRCA1: P1749R

PubMed Link: 28264838

Variant Present in the following documents:

• Main text

View BVdb publication page

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BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing.

Oncotarget

Mafficini, Andrea A; Simbolo, Michele M; Parisi, Alice A; Rusev, Borislav B; Luchini, Claudio C; Cataldo, Ivana I; Piazzola, Elena E; Sperandio, Nicola N; Turri, Giona G; Franchi, Massimo M; Tortora, Giampaolo G; Bovo, Chiara C; Lawlor, Rita T RT; Scarpa, Aldo A

Publication Date: 2016-01-12

Variant appearance in text: rs80357462

PubMed Link: 26745875

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

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

Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK

Publication Date: 2016-08

Variant appearance in text: BRCA1: 5246C>G; Pro1749Arg

PubMed Link: 26681312

Variant Present in the following documents:

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: P1749R

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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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Cancer Discovery

Sawyer, Sarah L SL; Tian, Lei L; Kähkönen, Marketta M; Schwartzentruber, Jeremy J; Kircher, Martin M; , ; , ; Majewski, Jacek J; Dyment, David A DA; Innes, A Micheil AM; Boycott, Kym M KM; Moreau, Lisa A LA; Moilanen, Jukka S JS; Greenberg, Roger A RA

Publication Date: 2015-02

Variant appearance in text: BRCA1: Pro1749Arg

PubMed Link: 25472942

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of poly(ADP-ribosyl)ation in DNA damage response and cancer chemotherapy.

Oncogene

Li, M M; Yu, X X

Publication Date: 2015-06

Variant appearance in text: BRCA1: P1749R

PubMed Link: 25220415

Variant Present in the following documents:

• Main text
• nihms618570.pdf

View BVdb publication page

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BRCA1 and CtIP suppress long-tract gene conversion between sister chromatids.

Nature Communications

Chandramouly, Gurushankar G; Kwok, Amy A; Huang, Bin B; Willis, Nicholas A NA; Xie, Anyong A; Scully, Ralph R

Publication Date: 2013

Variant appearance in text: BRCA1: P1749R

PubMed Link: 23994874

Variant Present in the following documents:

• Main text
• NIHMS512975-supplement-1.pdf
• nihms512975.pdf

View BVdb publication page

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Function of BRCA1 in the DNA damage response is mediated by ADP-ribosylation.

Cancer Cell

Li, Mo M; Yu, Xiaochun X

Publication Date: 2013-05-13

Variant appearance in text: BRCA1: P1749R

PubMed Link: 23680151

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

Cancer Discovery

Domchek, Susan M SM; Tang, Jiangbo J; Stopfer, Jill J; Lilli, Dana R DR; Hamel, Nancy N; Tischkowitz, Marc M; Monteiro, Alvaro N A AN; Messick, Troy E TE; Powers, Jacquelyn J; Yonker, Alexandria A; Couch, Fergus J FJ; Goldgar, David E DE; Davidson, H Rosemarie HR; Nathanson, Katherine L KL; Foulkes, William D WD; Greenberg, Roger A RA

Publication Date: 2013-04

Variant appearance in text: BRCA1: Pro1749Arg

PubMed Link: 23269703

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of BRCA1 protein targeting, dynamics, and function at the centrosome: a role for the nuclear export signal, CRM1, and Aurora A kinase.

The Journal Of Biological Chemistry

Brodie, Kirsty M KM; Henderson, Beric R BR

Publication Date: 2012-03-02

Variant appearance in text: BRCA1: P1749R

PubMed Link: 22262852

Variant Present in the following documents:

• Main text

View BVdb publication page

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DNA damage-induced cytotoxicity is dissociated from BRCA1's DNA repair function but is dependent on its cytosolic accumulation.

Cancer Research

Wang, Hong H; Yang, Eddy S ES; Jiang, Juhong J; Nowsheen, Somaira S; Xia, Fen F

Publication Date: 2010-08-01

Variant appearance in text: BRCA1: P1749R

PubMed Link: 20631074

Variant Present in the following documents:

• Main text

View BVdb publication page

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Wild-type BRCA1, but not mutated BRCA1, regulates the expression of the nuclear form of beta-catenin.

Molecular Cancer Research : Mcr

Li, Huchun H; Sekine, Masayuki M; Tung, Nadine N; Avraham, Hava Karsenty HK

Publication Date: 2010-03

Variant appearance in text: BRCA1: P1749R

PubMed Link: 20215423

Variant Present in the following documents:

• Main text

View BVdb publication page

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BRCA1 interacts with Smad3 and regulates Smad3-mediated TGF-beta signaling during oxidative stress responses.

Plos One

Li, Huchun H; Sekine, Masayuki M; Seng, Seyha S; Avraham, Shalom S; Avraham, Hava Karsenty HK

Publication Date: 2009-09-21

Variant appearance in text: BRCA1: P1749R

PubMed Link: 19768112

Variant Present in the following documents:

• Main text
• pone.0007091.pdf

View BVdb publication page

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BRCA1 interaction of centrosomal protein Nlp is required for successful mitotic progression.

The Journal Of Biological Chemistry

Jin, Shunqian S; Gao, Hua H; Mazzacurati, Lucia L; Wang, Yang Y; Fan, Wenhong W; Chen, Qiang Q; Yu, Wei W; Wang, Mingrong M; Zhu, Xueliang X; Zhang, Chuanmao C; Zhan, Qimin Q

Publication Date: 2009-08-21

Variant appearance in text: BRCA1: P1749R

PubMed Link: 19509300

Variant Present in the following documents:

• Main text

View BVdb publication page

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Negative Regulation of AKT Activation by BRCA1.

Cancer Research

Xiang, Tao T; Ohashi, Amiko A; Huang, Yuping Y; Pandita, Tej K TK; Ludwig, Thomas T; Powell, Simon N SN; Yang, Qin Q

Publication Date: 2008-12-15

Variant appearance in text: BRCA1: P1749R

PubMed Link: 19074868

Variant Present in the following documents:

• Main text

View BVdb publication page

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High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic.

Bmc Medical Genetics

Vasickova, Petra P; Machackova, Eva E; Lukesova, Miroslava M; Damborsky, Jiri J; Horky, Ondrej O; Pavlu, Hana H; Kuklova, Jitka J; Kosinova, Veronika V; Navratilova, Marie M; Foretova, Lenka L

Publication Date: 2007-06-11

Variant appearance in text: BRCA1: P1749R

PubMed Link: 17561994

Variant Present in the following documents:

• Main text

View BVdb publication page

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Increase of androgen-induced cell death and androgen receptor transactivation by BRCA1 in prostate cancer cells.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Yeh, S S; Hu, Y C YC; Rahman, M M; Lin, H K HK; Hsu, C L CL; Ting, H J HJ; Kang, H Y HY; Chang, C C

Publication Date: 2000-10-10

Variant appearance in text: BRCA1: P1749R

PubMed Link: 11016951

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation.

Cancer Research

Hayes, F F; Cayanan, C C; Barillà, D D; Monteiro, A N AN

Publication Date: 2000-05-01

Variant appearance in text: BRCA1: P1749R

PubMed Link: 10811118

Variant Present in the following documents:

• Main text

View BVdb publication page

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