Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: BRCA2: C554W

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.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: rs80358451

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

View BVdb publication page

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Multiparametric and accurate functional analysis of genetic sequence variants using CRISPR-Select.

Nature Genetics

Niu, Yiyuan Y; Ferreira Azevedo, Catarina A CA; Li, Xin X; Kamali, Elahe E; Haagen Nielsen, Ole O; Storgaard Sørensen, Claus C; Frödin, Morten M

Publication Date: 2022-12

Variant appearance in text: BRCA2: C554W

PubMed Link: 36471068

Variant Present in the following documents:

• 41588_2022_1224_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: BRCA2: C554W

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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Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports

Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ

Publication Date: 2021-08-09

Variant appearance in text: BRCA2: C554W; rs80358451

PubMed Link: 34373545

Variant Present in the following documents:

• 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1

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: 1662T>G; C554W; rs80358451

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6

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: 1662T>G; Cys554Trp

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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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: 1662T>G; C554W; rs80358451

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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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: BRCA2: 1662T>G; C554W

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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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: BRCA2: 1662T>G; Cys554Trp

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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: BRCA2: 1662T>G; C554W

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: BRCA2: C554W

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
• 41467_2018_5914_MOESM12_ESM.xlsx, sheet 1
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 2
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.

Blood Cancer Journal

Maung, Kyaw Ze Ya KZY; Leo, Paul J PJ; Bassal, Mahmoud M; Casolari, Debora A DA; Gray, James X JX; Bray, Sarah C SC; Pederson, Stephen S; Singhal, Deepak D; Samaraweera, Saumya E SE; Nguyen, Tran T; Cildir, Gökhan G; Marshall, Mhairi M; Ewing, Adam A; Duncan, Emma L EL; Brown, Matthew A MA; Saal, Russell R; Tergaonkar, Vinay V; To, Luen Bik LB; Marlton, Paula P; Gill, Devinder D; Lewis, Ian I; Deans, Andrew J AJ; Brown, Anna L AL; D'Andrea, Richard J RJ; Gonda, Thomas J TJ

Publication Date: 2018-06-01

Variant appearance in text: BRCA2: C554W

PubMed Link: 29891941

Variant Present in the following documents:

• 41408_2018_90_MOESM2_ESM.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: BRCA2: C554W

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: BRCA2: 1662T>G; Cys554Trp; rs80358451

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

View BVdb publication page

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Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.

Bmc Medical Genomics

Ernst, Corinna C; Hahnen, Eric E; Engel, Christoph C; Nothnagel, Michael M; Weber, Jonas J; Schmutzler, Rita K RK; Hauke, Jan J

Publication Date: 2018-03-27

Variant appearance in text: BRCA2: C554W

PubMed Link: 29580235

Variant Present in the following documents:

• 12920_2018_353_MOESM1_ESM.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: BRCA2: 1662T>G; Cys554Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications

Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L

Publication Date: 2015-12-22

Variant appearance in text: BRCA2: C554W

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s13.xlsx, sheet 1

View BVdb publication page

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Functional assays for analysis of variants of uncertain significance in BRCA2.

Human Mutation

Guidugli, Lucia L; Carreira, Aura A; Caputo, Sandrine M SM; Ehlen, Asa A; Galli, Alvaro A; Monteiro, Alvaro N A AN; Neuhausen, Susan L SL; Hansen, Thomas V O TV; Couch, Fergus J FJ; Vreeswijk, Maaike P G MP; ,

Publication Date: 2014-02

Variant appearance in text: BRCA2: 1662T>G

PubMed Link: 24323938

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: BRCA2: C554W; rs80358451

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

View BVdb publication page

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BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis.

Developmental Cell

Mondal, Gourish G; Rowley, Matthew M; Guidugli, Lucia L; Wu, Jianmin J; Pankratz, Vernon S VS; Couch, Fergus J FJ

Publication Date: 2012-07-17

Variant appearance in text: BRCA2: C554W

PubMed Link: 22771033

Variant Present in the following documents:

• Main text

View BVdb publication page

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A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Human Mutation

Lindor, Noralane M NM; Guidugli, Lucia L; Wang, Xianshu X; Vallée, Maxime P MP; Monteiro, Alvaro N A AN; Tavtigian, Sean S; Goldgar, David E DE; Couch, Fergus J FJ

Publication Date: 2012-01

Variant appearance in text: BRCA2: 1662T>G; C554W

PubMed Link: 21990134

Variant Present in the following documents:

• Main text

View BVdb publication page

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A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

American Journal Of Human Genetics

Easton, Douglas F DF; Deffenbaugh, Amie M AM; Pruss, Dmitry D; Frye, Cynthia C; Wenstrup, Richard J RJ; Allen-Brady, Kristina K; Tavtigian, Sean V SV; Monteiro, Alvaro N A AN; Iversen, Edwin S ES; Couch, Fergus J FJ; Goldgar, David E DE

Publication Date: 2007-11

Variant appearance in text: BRCA2: C554W

PubMed Link: 17924331

Variant Present in the following documents:

• Main text

View BVdb publication page

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