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>G; 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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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

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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

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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: BRCA1: 5559C>G; Tyr1853Ter; rs80357336

PubMed Link: 34253785

Variant Present in the following documents:

• 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: 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>G; Tyr1853X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.

Geburtshilfe Und Frauenheilkunde

Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A

Publication Date: 2020-04

Variant appearance in text: BRCA1: 5559C>G; Tyr1853Ter

PubMed Link: 32322110

Variant Present in the following documents:

• Main text

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

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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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Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.

The Journal Of Biological Chemistry

Fernandes, Vanessa C VC; Golubeva, Volha A VA; Di Pietro, Giuliano G; Shields, Cara C; Amankwah, Kwabena K; Nepomuceno, Thales C TC; de Gregoriis, Giuliana G; Abreu, Renata B V RBV; Harro, Carly C; Gomes, Thiago T TT; Silva, Ricceli F RF; Suarez-Kurtz, Guilherme G; Couch, Fergus J FJ; Iversen, Edwin S ES; Monteiro, Alvaro N A ANA; Carvalho, Marcelo A MA

Publication Date: 2019-04-12

Variant appearance in text: BRCA1: Y1853X

PubMed Link: 30765603

Variant Present in the following documents:

• Main text

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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>G; Y1853*

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

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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

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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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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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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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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

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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

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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

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