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: 4220T>C; L1407P; rs80357492

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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: BRCA1: L1407P

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2
• Table3.xlsx, sheet 1

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: L1407P

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: L1407P

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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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: L1407P

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: 4220T>C; Leu1407Pro; rs80357492

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_MOESM2_ESM.xlsx, sheet 8

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Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology

Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X

Publication Date: 2021-03-10

Variant appearance in text: BRCA1: L1407P

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.

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

Lyra, Paulo C M PCM; Nepomuceno, Thales C TC; de Souza, Marcele L M MLM; Machado, Géssica F GF; Veloso, Mariana F MF; Henriques, Taciane B TB; Dos Santos, Diandra Z DZ; Ribeiro, Iuly G IG; Ribeiro, Roberto S RS; Rangel, Leticia B A LBA; Richardson, Marcy M; Iversen, Edwin S ES; Goldgar, David D; Couch, Fergus J FJ; Carvalho, Marcelo A MA; Monteiro, Alvaro N A ANA

Publication Date: 2021-02

Variant appearance in text: BRCA1: L1407P

PubMed Link: 33087888

Variant Present in the following documents:

• 41436_2020_991_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Brca1 mutations in the coiled-coil domain impede Rad51 loading on DNA and mouse development.

Molecular & Cellular Oncology

Krais, J J JJ; Johnson, N N

Publication Date: 2020

Variant appearance in text: BRCA1: L1407P

PubMed Link: 32944641

Variant Present in the following documents:

• Main text
• KMCO_7_1786345.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: 4220T>C; Leu1407Pro

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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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: L1407P

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: 4220T>C; L1407P; rs80357492

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.

Frontiers In Oncology

Caleca, Laura L; Catucci, Irene I; Figlioli, Gisella G; De Cecco, Loris L; Pesaran, Tina T; Ward, Maggie M; Volorio, Sara S; Falanga, Anna A; Marchetti, Marina M; Iascone, Maria M; Tondini, Carlo C; Zambelli, Alberto A; Azzollini, Jacopo J; Manoukian, Siranoush S; Radice, Paolo P; Peterlongo, Paolo P

Publication Date: 2018

Variant appearance in text: BRCA1: 4220T>C; Leu1407Pro

PubMed Link: 30410870

Variant Present in the following documents:

• Main text
• fonc-08-00480.pdf

View BVdb publication page

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BRCA1 Mutation-Specific Responses to 53BP1 Loss-Induced Homologous Recombination and PARP Inhibitor Resistance.

Cell Reports

Nacson, Joseph J; Krais, John J JJ; Bernhardy, Andrea J AJ; Clausen, Emma E; Feng, Wanjuan W; Wang, Yifan Y; Nicolas, Emmanuelle E; Cai, Kathy Q KQ; Tricarico, Rossella R; Hua, Xiang X; DiMarcantonio, Daniela D; Martinez, Esteban E; Zong, Dali D; Handorf, Elizabeth A EA; Bellacosa, Alfonso A; Testa, Joseph R JR; Nussenzweig, Andre A; Gupta, Gaorav P GP; Sykes, Stephen M SM; Johnson, Neil N

Publication Date: 2018-09-25

Variant appearance in text: BRCA1: L1407P

PubMed Link: 30257212

Variant Present in the following documents:

• Main text

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: L1407P

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Npj Genomic Medicine

Woods, Nicholas T NT; Baskin, Rebekah R; Golubeva, Volha V; Jhuraney, Ankita A; De-Gregoriis, Giuliana G; Vaclova, Tereza T; Goldgar, David E DE; Couch, Fergus J FJ; Carvalho, Marcelo Alex MA; Iversen, Edwin S ES; Monteiro, Alvaro Na AN

Publication Date: 2016

Variant appearance in text: BRCA1: L1407P

PubMed Link: 28781887

Variant Present in the following documents:

• Main text
• npjgenmed20161.pdf

View BVdb publication page

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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: 4220T>C; L1407P

PubMed Link: 28398198

Variant Present in the following documents:

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

View BVdb publication page

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The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin.

Cancer Research

Wang, Yifan Y; Bernhardy, Andrea J AJ; Cruz, Cristina C; Krais, John J JJ; Nacson, Joseph J; Nicolas, Emmanuelle E; Peri, Suraj S; van der Gulden, Hanneke H; van der Heijden, Ingrid I; O'Brien, Shane W SW; Zhang, Yong Y; Harrell, Maribel I MI; Johnson, Shawn F SF; Candido Dos Reis, Francisco J FJ; Pharoah, Paul D P PD; Karlan, Beth B; Gourley, Charlie C; Lambrechts, Diether D; Chenevix-Trench, Georgia G; Olsson, Håkan H; Benitez, Javier J JJ; Greene, Mark H MH; Gore, Martin M; Nussbaum, Robert R; Sadetzki, Siegal S; Gayther, Simon A SA; Kjaer, Susanne K SK; , ; D'Andrea, Alan D AD; Shapiro, Geoffrey I GI; Wiest, David L DL; Connolly, Denise C DC; Daly, Mary B MB; Swisher, Elizabeth M EM; Bouwman, Peter P; Jonkers, Jos J; Balmaña, Judith J; Serra, Violeta V; Johnson, Neil N

Publication Date: 2016-05-01

Variant appearance in text: BRCA1: L1407P

PubMed Link: 27197267

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

Plos One

Whiley, Phillip J PJ; Parsons, Michael T MT; Leary, Jennifer J; Tucker, Kathy K; Warwick, Linda L; Dopita, Belinda B; Thorne, Heather H; Lakhani, Sunil R SR; Goldgar, David E DE; Brown, Melissa A MA; Spurdle, Amanda B AB

Publication Date: 2014

Variant appearance in text: BRCA1: Leu1407Pro

PubMed Link: 24489791

Variant Present in the following documents:

• Main text
• pone.0086836.pdf

View BVdb publication page

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Structure-Function Of The Tumor Suppressor BRCA1.

Computational And Structural Biotechnology Journal

Clark, Serena L SL; Rodriguez, Ana M AM; Snyder, Russell R RR; Hankins, Gary D V GD; Boehning, Darren D

Publication Date: 2012-04-01

Variant appearance in text: BRCA1: Leu1407Pro

PubMed Link: 22737296

Variant Present in the following documents:

• Main text
• CSBJ-1-e201204005.pdf

View BVdb publication page

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A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Iversen, Edwin S ES; Couch, Fergus J FJ; Goldgar, David E DE; Tavtigian, Sean V SV; Monteiro, Alvaro N A AN

Publication Date: 2011-06

Variant appearance in text: BRCA1: L1407P

PubMed Link: 21447777

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis.

Nature Reviews. Molecular Cell Biology

Moynahan, Mary Ellen ME; Jasin, Maria M

Publication Date: 2010-03

Variant appearance in text: BRCA1: Leu1407Pro

PubMed Link: 20177395

Variant Present in the following documents:

• Main text

View BVdb publication page

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BRCA1 and its toolbox for the maintenance of genome integrity.

Nature Reviews. Molecular Cell Biology

Huen, Michael S Y MS; Sy, Shirley M H SM; Chen, Junjie J

Publication Date: 2010-02

Variant appearance in text: BRCA1: Leu1407Pro

PubMed Link: 20029420

Variant Present in the following documents:

• Main text

View BVdb publication page

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PALB2 is an integral component of the BRCA complex required for homologous recombination repair.

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

Sy, Shirley M H SM; Huen, Michael S Y MS; Chen, Junjie J

Publication Date: 2009-04-28

Variant appearance in text: BRCA1: L1407P

PubMed Link: 19369211

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic structure of chromosome 17 deletions in BRCA1-associated ovarian cancers.

Cancer Genetics And Cytogenetics

Chisholm, Karen M KM; Goff, Barbara A BA; Garcia, Rochelle R; King, Mary-Claire MC; Swisher, Elizabeth M EM

Publication Date: 2008-05

Variant appearance in text: BRCA1: L1407P

PubMed Link: 18474296

Variant Present in the following documents:

• Main text

View BVdb publication page

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BRCA1 transcriptional activity is enhanced by interactions between its AD1 domain and AhR.

Cancer Chemotherapy And Pharmacology

Kang, Hyo Jin HJ; Kim, Hee Jeong HJ; Cho, Chi-Heum CH; Hu, Yanfen Y; Li, Rong R; Bae, Insoo I

Publication Date: 2008-11

Variant appearance in text: BRCA1: L1407P

PubMed Link: 18259752

Variant Present in the following documents:

• Main text

View BVdb publication page

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Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

Cancer Research

Carvalho, Marcelo A MA; Marsillac, Sylvia M SM; Karchin, Rachel R; Manoukian, Siranoush S; Grist, Scott S; Swaby, Ramona F RF; Urmenyi, Turan P TP; Rondinelli, Edson E; Silva, Rosane R; Gayol, Luis L; Baumbach, Lisa L; Sutphen, Rebecca R; Pickard-Brzosowicz, Jennifer L JL; Nathanson, Katherine L KL; Sali, Andrej A; Goldgar, David D; Couch, Fergus J FJ; Radice, Paolo P; Monteiro, Alvaro N A AN

Publication Date: 2007-02-15

Variant appearance in text: BRCA1: L1407P

PubMed Link: 17308087

Variant Present in the following documents:

• Main text

View BVdb publication page

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Classification of BRCA1 missense variants of unknown clinical significance.

Journal Of Medical Genetics

Phelan, C M CM; Dapic, V V; Tice, B B; Favis, R R; Kwan, E E; Barany, F F; Manoukian, S S; Radice, P P; van der Luijt, R B RB; van Nesselrooij, B P M BP; Chenevix-Trench, G G; kConFab, ; Caldes, T T; de la Hoya, M M; Lindquist, S S; Tavtigian, S V SV; Goldgar, D D; Borg, A A; Narod, S A SA; Monteiro, A N A AN

Publication Date: 2005-02

Variant appearance in text: BRCA1: L1407P

PubMed Link: 15689452

Variant Present in the following documents:

• Main text

View BVdb publication page

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JunB potentiates function of BRCA1 activation domain 1 (AD1) through a coiled-coil-mediated interaction.

Genes & Development

Hu, Yan-Fen YF; Li, Rong R

Publication Date: 2002-06-15

Variant appearance in text: BRCA1: L1407P

PubMed Link: 12080089

Variant Present in the following documents:

• Main text

View BVdb publication page

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