Publications:

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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: 5559C>A; Tyr1853Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.

Journal Of Personalized Medicine

Wildin, Robert S RS; Gerrard, Diana L DL; Leonard, Debra G B DGB

Publication Date: 2022-11-28

Variant appearance in text: BRCA1: Tyr1853*

PubMed Link: 36556183

Variant Present in the following documents:

• Main text
• jpm-12-01962.pdf

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Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough.

Frontiers In Pharmacology

Abreu, Renata B V RBV; Gomes, Thiago T TT; Nepomuceno, Thales C TC; Li, Xueli X; Fuchshuber-Moraes, Mateus M; De Gregoriis, Giuliana G; Suarez-Kurtz, Guilherme G; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA

Publication Date: 2022

Variant appearance in text: BRCA1: Y1853X

PubMed Link: 35837282

Variant Present in the following documents:

• Main text
• fphar-13-935995.pdf

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Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.

Precision Clinical Medicine

Sharma-Oates, Archana A; Shaaban, Abeer M AM; Tomlinson, Ian I; Wynne, Luke L; Cazier, Jean-Baptiste JB; Sundar, Sudha S

Publication Date: 2018-09

Variant appearance in text: BRCA1: 5559C>A; Tyr1853Ter; rs80357336

PubMed Link: 35693198

Variant Present in the following documents:

• Main text
• pby010.pdf

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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: Y1853X

PubMed Link: 35665744

Variant Present in the following documents:

• 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: Y1853*

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Risks and Function of Breast Cancer Susceptibility Alleles.

Cancers

Torabi Dalivandan, Saeideh S; Plummer, Jasmine J; Gayther, Simon A SA

Publication Date: 2021-08-05

Variant appearance in text: BRCA1: Tyr1853*

PubMed Link: 34439109

Variant Present in the following documents:

• Main text
• cancers-13-03953.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: N/A

PubMed Link: 34253785

Variant Present in the following documents:

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: Y1853X

PubMed Link: 33083472

Variant Present in the following documents:

• Main text
• BMRI2020-5491963.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: 5559C>A; Tyr1853X

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: Y1853*

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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Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation.

Cancers

Golubeva, Volha A VA; Nepomuceno, Thales C TC; Monteiro, Alvaro N A ANA

Publication Date: 2019-04-12

Variant appearance in text: BRCA1: Tyr1853*

PubMed Link: 31013702

Variant Present in the following documents:

• Main text
• cancers-11-00522.pdf

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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: 5559C>A; Y1853*

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

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: 5559C>A; Tyr1853Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.

Plos Genetics

Thouvenot, Pierre P; Ben Yamin, Barbara B; Fourrière, Lou L; Lescure, Aurianne A; Boudier, Thomas T; Del Nery, Elaine E; Chauchereau, Anne A; Goldgar, David E DE; Houdayer, Claude C; Stoppa-Lyonnet, Dominique D; Nicolas, Alain A; Millot, Gaël A GA

Publication Date: 2016-06

Variant appearance in text: BRCA1: Y1853X

PubMed Link: 27272900

Variant Present in the following documents:

• pgen.1006096.s002.pdf
• pgen.1006096.s001.pdf

View BVdb publication page

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Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling.

European Journal Of Human Genetics : Ejhg

Petersen, Annabeth Høgh AH; Aagaard, Mads Malik MM; Nielsen, Henriette Roed HR; Steffensen, Karina Dahl KD; Waldstrøm, Marianne M; Bojesen, Anders A

Publication Date: 2016-08

Variant appearance in text: BRCA1: 5559C>A

PubMed Link: 26733283

Variant Present in the following documents:

• Main text

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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: Y1853X

PubMed Link: 24845084

Variant Present in the following documents:

• Main text
• pone.0097766.pdf

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The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.

Plos One

Christou, Charita M CM; Hadjisavvas, Andreas A; Kyratzi, Maria M; Flouri, Christina C; Neophytou, Ioanna I; Anastasiadou, Violetta V; Loizidou, Maria A MA; Kyriacou, Kyriacos K

Publication Date: 2014

Variant appearance in text: BRCA1: Y1853X

PubMed Link: 24695549

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional and structural analysis of C-terminal BRCA1 missense variants.

Plos One

Quiles, Francisco F; Fernández-Rodríguez, Juana J; Mosca, Roberto R; Feliubadaló, Lídia L; Tornero, Eva E; Brunet, Joan J; Blanco, Ignacio I; Capellá, Gabriel G; Pujana, Miquel Àngel MÀ; Aloy, Patrick P; Monteiro, Alvaro A; Lázaro, Conxi C

Publication Date: 2013

Variant appearance in text: BRCA1: Y1853X

PubMed Link: 23613828

Variant Present in the following documents:

• Main text
• pone.0061302.pdf

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A guide for functional analysis of BRCA1 variants of uncertain significance.

Human Mutation

Millot, Gaël A GA; Carvalho, Marcelo A MA; Caputo, Sandrine M SM; Vreeswijk, Maaike P G MP; Brown, Melissa A MA; Webb, Michelle M; Rouleau, Etienne E; Neuhausen, Susan L SL; Hansen, Thomas v O Tv; Galli, Alvaro A; Brandão, Rita D RD; Blok, Marinus J MJ; Velkova, Aneliya A; Couch, Fergus J FJ; Monteiro, Alvaro N A AN; ,

Publication Date: 2012-11

Variant appearance in text: N/A

PubMed Link: 22753008

Variant Present in the following documents:

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: N/A

PubMed Link: 22262852

Variant Present in the following documents:

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: N/A

PubMed Link: 21447777

Variant Present in the following documents:

View BVdb publication page

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Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

Cancer Research

Lee, Megan S MS; Green, Ruth R; Marsillac, Sylvia M SM; Coquelle, Nicolas N; Williams, R Scott RS; Yeung, Telford T; Foo, Desmond D; Hau, D Duong DD; Hui, Ben B; Monteiro, Alvaro N A AN; Glover, J N Mark JN

Publication Date: 2010-06-15

Variant appearance in text: N/A

PubMed Link: 20516115

Variant Present in the following documents:

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: N/A

PubMed Link: 20215423

Variant Present in the following documents:

View BVdb publication page

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Crosstalk between the DNA damage response, histone modifications and neovascularisation.

The International Journal Of Biochemistry & Cell Biology

Vassilopoulos, Athanassios A; Deng, Chu-Xia CX; Chavakis, Triantafyllos T

Publication Date: 2010-02

Variant appearance in text: N/A

PubMed Link: 19945543

Variant Present in the following documents:

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: Y1853x

PubMed Link: 19768112

Variant Present in the following documents:

• Main text
• pone.0007091.pdf

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Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.

Mutation Research

Carvalho, Marcelo M; Pino, Maria A MA; Karchin, Rachel R; Beddor, Jennifer J; Godinho-Netto, Martha M; Mesquita, Rafael D RD; Rodarte, Renato S RS; Vaz, Danielle C DC; Monteiro, Viviane A VA; Manoukian, Siranoush S; Colombo, Mara M; Ripamonti, Carla B CB; Rosenquist, Richard R; Suthers, Graeme G; Borg, Ake A; Radice, Paolo P; Grist, Scott A SA; Monteiro, Alvaro N A AN; Billack, Blase B

Publication Date: 2009-01-15

Variant appearance in text: N/A

PubMed Link: 18992264

Variant Present in the following documents:

View BVdb publication page

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Assessment of functional effects of unclassified genetic variants.

Human Mutation

Couch, Fergus J FJ; Rasmussen, Lene Juel LJ; Hofstra, Robert R; Monteiro, Alvaro N A AN; Greenblatt, Marc S MS; de Wind, Niels N; ,

Publication Date: 2008-11

Variant appearance in text: N/A

PubMed Link: 18951449

Variant Present in the following documents:

View BVdb publication page

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MYC in breast tumor progression.

Expert Review Of Anticancer Therapy

Chen, Yinghua Y; Olopade, Olufunmilayo I OI

Publication Date: 2008-10

Variant appearance in text: N/A

PubMed Link: 18925859

Variant Present in the following documents:

View BVdb publication page

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Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

European Journal Of Human Genetics : Ejhg

Tischkowitz, Marc M; Hamel, Nancy N; Carvalho, Marcelo A MA; Birrane, Gabriel G; Soni, Aditi A; van Beers, Erik H EH; Joosse, Simon A SA; Wong, Nora N; Novak, David D; Quenneville, Louise A LA; Grist, Scott A SA; , ; Nederlof, Petra M PM; Goldgar, David E DE; Tavtigian, Sean V SV; Monteiro, Alvaro N AN; Ladias, John A A JA; Foulkes, William D WD

Publication Date: 2008-07

Variant appearance in text: N/A

PubMed Link: 18285836

Variant Present in the following documents:

View BVdb publication page

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Correction: functional analysis of BRCA1 M1628V variant.

Journal Of Medical Genetics

Carvalho, Marcelo A MA; Monteiro, Alvaro N A AN

Publication Date: 2007-05

Variant appearance in text: N/A

PubMed Link: 17311832

Variant Present in the following documents:

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: N/A

PubMed Link: 17308087

Variant Present in the following documents:

View BVdb publication page

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Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.

Journal Of Medical Genetics

Lovelock, P K PK; Healey, S S; Au, W W; Sum, E Y M EY; Tesoriero, A A; Wong, E M EM; Hinson, S S; Brinkworth, R R; Bekessy, A A; Diez, O O; Izatt, L L; Solomon, E E; Jenkins, M M; Renard, H H; Hopper, J J; Waring, P P; Tavtigian, S V SV; Goldgar, D D; Lindeman, G J GJ; Visvader, J E JE; Couch, F J FJ; Henderson, B R BR; Southey, M M; Chenevix-Trench, G G; Spurdle, A B AB; Brown, M A MA; ,

Publication Date: 2006-01

Variant appearance in text: N/A

PubMed Link: 15923272

Variant Present in the following documents:

View BVdb publication page

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BRCA1 can modulate RNA polymerase II carboxy-terminal domain phosphorylation levels.

Molecular And Cellular Biology

Moisan, Annie A; Larochelle, Chantal C; Guillemette, Benoît B; Gaudreau, Luc L

Publication Date: 2004-08

Variant appearance in text: BRCA1: Y1853X

PubMed Link: 15282296

Variant Present in the following documents:

• Main text

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BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations.

The Journal Of Cell Biology

Ye, Q Q; Hu, Y F YF; Zhong, H H; Nye, A C AC; Belmont, A S AS; Li, R R

Publication Date: 2001-12-10

Variant appearance in text: BRCA1: Y1853X

PubMed Link: 11739404

Variant Present in the following documents:

• Main text
• 0108049.pdf

View BVdb publication page

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BRCA1 can stimulate gene transcription by a unique mechanism.

Embo Reports

Nadeau, G G; Boufaied, N N; Moisan, A A; Lemieux, K M KM; Cayanan, C C; Monteiro, A N AN; Gaudreau, L L

Publication Date: 2000-09

Variant appearance in text: BRCA1: Y1853X

PubMed Link: 11256609

Variant Present in the following documents:

• Main text

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Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.

Human Molecular Genetics

Vallon-Christersson, J J; Cayanan, C C; Haraldsson, K K; Loman, N N; Bergthorsson, J T JT; Brøndum-Nielsen, K K; Gerdes, A M AM; Møller, P P; Kristoffersson, U U; Olsson, H H; Borg, A A; Monteiro, A N AN

Publication Date: 2001-02-15

Variant appearance in text: BRCA1: Y1853X

PubMed Link: 11157798

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: Y1853X

PubMed Link: 10811118

Variant Present in the following documents:

• Main text

View BVdb publication page

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