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: BRCA2: 619A>G; Thr207Ala; rs80358858

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: BRCA2: 619A>G

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.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: rs80358858

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

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: BRCA2: T207A

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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Transcriptional differentiation of Trypanosoma brucei during in vitro acquisition of resistance to acoziborole.

Plos Neglected Tropical Diseases

Steketee, Pieter C PC; Giordani, Federica F; Vincent, Isabel M IM; Crouch, Kathryn K; Achcar, Fiona F; Dickens, Nicholas J NJ; Morrison, Liam J LJ; MacLeod, Annette A; Barrett, Michael P MP

Publication Date: 2021-11

Variant appearance in text: BRCA2: 619A>G

PubMed Link: 34752454

Variant Present in the following documents:

• pntd.0009939.s005.xlsx, sheet 2

View BVdb publication page

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Transcription/Replication Conflicts in Tumorigenesis and Their Potential Role as Novel Therapeutic Targets in Multiple Myeloma.

Cancers

Dutrieux, Laure L; Lin, Yea-Lih YL; Lutzmann, Malik M; Rodriguez, Raphaël R; Cogné, Michel M; Pasero, Philippe P; Moreaux, Jérôme J

Publication Date: 2021-07-27

Variant appearance in text: BRCA2: T207A

PubMed Link: 34359660

Variant Present in the following documents:

• Main text
• cancers-13-03755.pdf

View BVdb publication page

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Missense Variants of Uncertain Significance: A Powerful Genetic Tool for Function Discovery with Clinical Implications.

Cancers

Sessa, Gaetana G; Ehlén, Åsa Å; von Nicolai, Catharina C; Carreira, Aura A

Publication Date: 2021-07-23

Variant appearance in text: BRCA2: 619A>G; T207A

PubMed Link: 34359619

Variant Present in the following documents:

• Main text

View BVdb publication page

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Intrinsic Disorder and Phosphorylation in BRCA2 Facilitate Tight Regulation of Multiple Conserved Binding Events.

Biomolecules

Julien, Manon M; Ghouil, Rania R; Petitalot, Ambre A; Caputo, Sandrine M SM; Carreira, Aura A; Zinn-Justin, Sophie S

Publication Date: 2021-07-20

Variant appearance in text: BRCA2: T207A

PubMed Link: 34356684

Variant Present in the following documents:

• Main text
• biomolecules-11-01060.pdf

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: BRCA2: 619A>G; Thr207Ala; rs80358858

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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: BRCA2: 619A>G; Thr207Ala

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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Proper chromosome alignment depends on BRCA2 phosphorylation by PLK1.

Nature Communications

Ehlén, Åsa Å; Martin, Charlotte C; Miron, Simona S; Julien, Manon M; Theillet, François-Xavier FX; Ropars, Virginie V; Sessa, Gaetana G; Beaurepere, Romane R; Boucherit, Virginie V; Duchambon, Patricia P; El Marjou, Ahmed A; Zinn-Justin, Sophie S; Carreira, Aura A

Publication Date: 2020-04-14

Variant appearance in text: BRCA2: T207A

PubMed Link: 32286328

Variant Present in the following documents:

• Main text
• 41467_2020_15689_MOESM3_ESM.pdf
• 41467_2020_Article_15689.pdf
• 41467_2020_15689_MOESM8_ESM.xlsx, sheet 13
• 41467_2020_15689_MOESM2_ESM.pdf
• 41467_2020_15689_MOESM7_ESM.pdf
• 41467_2020_15689_MOESM1_ESM.pdf

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: BRCA2: 619A>G; T207A; rs80358858

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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Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

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

Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE

Publication Date: 2020-04

Variant appearance in text: BRCA2: 619A>G

PubMed Link: 31853058

Variant Present in the following documents:

• 41436_2019_729_MOESM3_ESM.xls, 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: BRCA2: T207A

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, 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: BRCA2: 619A>G; Thr207Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The EMSY threonine 207 phospho-site is required for EMSYdriven suppression of DNA damage repair.

Oncotarget

Jelinic, Petar P; Eccles, Laura A LA; Tseng, Jill J; Cybulska, Paulina P; Wielgos, Monicka M; Powell, Simon N SN; Levine, Douglas A DA

Publication Date: 2017-02-21

Variant appearance in text: BRCA2: T207A

PubMed Link: 28099152

Variant Present in the following documents:

• Main text
• oncotarget-08-13792.pdf

View BVdb publication page

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Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Human Mutation

Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV

Publication Date: 2016-07

Variant appearance in text: BRCA2: 619A>G; T207A

PubMed Link: 26913838

Variant Present in the following documents:

• HUMU-37-627-s001.xlsx, sheet 1

View BVdb publication page

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Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.

Plos Genetics

Soukarieh, Omar O; Gaildrat, Pascaline P; Hamieh, Mohamad M; Drouet, Aurélie A; Baert-Desurmont, Stéphanie S; Frébourg, Thierry T; Tosi, Mario M; Martins, Alexandra A

Publication Date: 2016-01

Variant appearance in text: BRCA2: 619A>G

PubMed Link: 26761715

Variant Present in the following documents:

View BVdb publication page

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Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

Plos One

Tram, Eric E; Savas, Sevtap S; Ozcelik, Hilmi H

Publication Date: 2013

Variant appearance in text: BRCA2: 619A>G; T207A; rs80358858

PubMed Link: 23704879

Variant Present in the following documents:

• Main text
• pone.0062468.pdf

View BVdb publication page

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