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: I2944F

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.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: 8830A>T

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: BRCA2: I2944F

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: BRCA2: 8830A>T; Ile2944Phe

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s002.xlsx, sheet 2

View BVdb publication page

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Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Scientific Reports

Matta, Bruna Palma BP; Gomes, Renan R; Mattos, Daniel D; Olicio, Renata R; Nascimento, Caroline Macedo CM; Ferreira, Gerson Moura GM; Brant, Ayslan Castro AC; Boroni, Mariana M; Furtado, Carolina C; Lima, Valdirene V; Moreira, Miguel Ângelo Martins MÂM; Dos Santos, Anna Cláudia Evangelista ACE

Publication Date: 2022-11-03

Variant appearance in text: BRCA2: 8830A>T; I2944F; rs4987047

PubMed Link: 36329109

Variant Present in the following documents:

• 41598_2022_23012_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine

Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G

Publication Date: 2022-09-20

Variant appearance in text: BRCA2: 8830A>T; I2944F

PubMed Link: 36125633

Variant Present in the following documents:

• CAM4-12-4042-s001.xlsx, sheet 1

View BVdb publication page

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Screening of BRCA1/2 variants in Mauritanian breast cancer patients.

Bmc Cancer

Brahim, Selma Mohamed SM; Zein, Ekht Elbenina EE; Bonnet, Crystel C; Hamed, Cheikh Tijani CT; Salame, Malak M; Zein, Mohamed Vall MV; Khyatti, Meriem M; Tolba, Ahmedou A; Houmeida, Ahmed A

Publication Date: 2022-07-20

Variant appearance in text: BRCA2: Ile2944Phe; rs4987047

PubMed Link: 35858847

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9903.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: I2944F

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: BRCA2: I2944F

PubMed Link: 35665744

Variant Present in the following documents:

• 41525_2022_302_MOESM3_ESM.xlsx, sheet 5
• 41525_2022_Article_302.pdf
• 41525_2022_302_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The Genomic Landscape of Early-Stage Ovarian High-Grade Serous Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Cheng, Zhao Z; Mirza, Hasan H; Ennis, Darren P DP; Smith, Philip P; Morrill Gavarró, Lena L; Sokota, Chishimba C; Giannone, Gaia G; Goranova, Theodora T; Bradley, Thomas T; Piskorz, Anna A; Lockley, Michelle M; , ; Kaur, Baljeet B; Singh, Naveena N; Tookman, Laura A LA; Krell, Jonathan J; McDermott, Jacqueline J; Macintyre, Geoffrey G; Markowetz, Florian F; Brenton, James D JD; McNeish, Iain A IA

Publication Date: 2022-07-01

Variant appearance in text: BRCA2: 8830A>T; Ile2944Phe

PubMed Link: 35398881

Variant Present in the following documents:

• ccr-21-1643_supplementary_table_2_supp2.xlsx, sheet 4

View BVdb publication page

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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs4987047

PubMed Link: 35112701

Variant Present in the following documents:

• 1415-4757-GMB-45-1-e20210172-s4.pdf

View BVdb publication page

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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs4987047

PubMed Link: 35112701

Variant Present in the following documents:

• 1415-4757-GMB-45-1-e20210172-s4.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: 8830A>T; I2944F; rs4987047

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.

Plos One

Salmi, Fatiha F; Maachi, Fatima F; Tazzite, Amal A; Aboutaib, Rachid R; Fekkak, Jamal J; Azeddoug, Houssine H; Jouhadi, Hassan H

Publication Date: 2021

Variant appearance in text: BRCA2: 8830A>T; Ile2944Phe

PubMed Link: 34242281

Variant Present in the following documents:

• Main text
• pone.0254101.pdf
• pone.0254101.s001.pdf

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: BRCA2: 8830A>T; Ile2944Phe; rs4987047

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: BRCA2: 8830A>T; Ile2944Phe; rs4987047

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: BRCA2: 8830A>T; Ile2944Phe

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 8

View BVdb publication page

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Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study.

Frontiers In Oncology

Oosthuizen, Jaco J; Kotze, Maritha J MJ; Van Der Merwe, Nicole N; Myburgh, Ettienne J EJ; Bester, Phillip P; van der Merwe, Nerina C NC

Publication Date: 2020

Variant appearance in text: BRCA2: 8830A>T; rs4987047

PubMed Link: 33643918

Variant Present in the following documents:

• Main text
• fonc-10-619469.pdf

View BVdb publication page

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A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Npj Genomic Medicine

Biswas, Kajal K; Lipton, Gary B GB; Stauffer, Stacey S; Sullivan, Teresa T; Cleveland, Linda L; Southon, Eileen E; Reid, Susan S; Magidson, Valentin V; Iversen, Edwin S ES; Sharan, Shyam K SK

Publication Date: 2020-12-08

Variant appearance in text: BRCA2: 8830A>T; I2944F

PubMed Link: 33293522

Variant Present in the following documents:

• Main text
• 41525_2020_Article_158.pdf

View BVdb publication page

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Identifying the Potential Mechanism of Action of SNPs Associated With Breast Cancer Susceptibility With GVITamIN.

Frontiers In Bioengineering And Biotechnology

Nguyen, An-Phi AP; Nicoletti, Paola P; Arnol, Damien D; Califano, Andrea A; Rodríguez Martínez, María M

Publication Date: 2020

Variant appearance in text: rs4987047

PubMed Link: 32850701

Variant Present in the following documents:

• Main text
• fbioe-08-00798.pdf

View BVdb publication page

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High-throughput functional evaluation of BRCA2 variants of unknown significance.

Nature Communications

Ikegami, Masachika M; Kohsaka, Shinji S; Ueno, Toshihide T; Momozawa, Yukihide Y; Inoue, Satoshi S; Tamura, Kenji K; Shimomura, Akihiko A; Hosoya, Noriko N; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2020-05-22

Variant appearance in text: BRCA2: I2944F

PubMed Link: 32444794

Variant Present in the following documents:

• 41467_2020_16141_MOESM1_ESM.pdf
• 41467_2020_16141_MOESM5_ESM.xlsx, sheet 1

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: 8830A>T; Ile2944Phe

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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Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene

Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N

Publication Date: 2020-05

Variant appearance in text: BRCA2: I2944F; rs4987047

PubMed Link: 32300177

Variant Present in the following documents:

• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Journal For Immunotherapy Of Cancer

Labriola, Matthew Kyle MK; Zhu, Jason J; Gupta, Rajan T RT; McCall, Shannon S; Jackson, Jennifer J; Kong, Eric F EF; White, James R JR; Cerqueira, Gustavo G; Gerding, Kelly K; Simmons, John K JK; George, Daniel D; Zhang, Tian T

Publication Date: 2020-03

Variant appearance in text: BRCA2: I2944F

PubMed Link: 32221016

Variant Present in the following documents:

• jitc-2019-000319supp001.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: 8830A>T; Ile2944Phe; rs4987047

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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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: BRCA2: 8830A>T; I2944F; rs4987047

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.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: 8830A>T; I2944F

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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Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.

Bmc Cancer

Zayas-Villanueva, Omar Alejandro OA; Campos-Acevedo, Luis Daniel LD; Lugo-Trampe, José de Jesús JJ; Hernández-Barajas, David D; González-Guerrero, Juan Francisco JF; Noriega-Iriondo, María Fernanda MF; Ramírez-Sánchez, Ilse Alejandra IA; Martínez-de-Villarreal, Laura Elia LE

Publication Date: 2019-07-22

Variant appearance in text: BRCA2: Ile2944Phe; rs4987047

PubMed Link: 31331294

Variant Present in the following documents:

• 12885_2019_5950_MOESM1_ESM.xlsx, sheet 1
• 12885_2019_5950_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: BRCA2: I2944F

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 63

View BVdb publication page

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Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.

Molecular Genetics & Genomic Medicine

Al Hannan, Fatima F; Keogh, Michael B MB; Taha, Safa S; Al Buainain, Latifa L

Publication Date: 2019-07

Variant appearance in text: BRCA2: 8830A>T; Ile2944Phe; rs4987047

PubMed Link: 31131559

Variant Present in the following documents:

• Main text
• MGG3-7-e00771.pdf

View BVdb publication page

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Data-adaptive multi-locus association testing in subjects with arbitrary genealogical relationships.

Statistical Applications In Genetics And Molecular Biology

Gong, Gail G; Wang, Wei W; Hsieh, Chih-Lin CL; Van Den Berg, David J DJ; Haiman, Christopher C; Oakley-Girvan, Ingrid I; Whittemore, Alice S AS

Publication Date: 2019-04-08

Variant appearance in text: BRCA2: I2944F

PubMed Link: 30956231

Variant Present in the following documents:

• Main text

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: 8830A>T; Ile2944Phe

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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Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Human Genomics

Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A

Publication Date: 2019-01-10

Variant appearance in text: BRCA2: 8830A>T; I2944F; rs4987047

PubMed Link: 30630528

Variant Present in the following documents:

• 40246_2018_188_MOESM3_ESM.xlsx, sheet 1

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: 8830A>T; I2944F

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

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: I2944F

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.

Journal Of Translational Medicine

Hamdi, Yosr Y; Boujemaa, Maroua M; Ben Rekaya, Mariem M; Ben Hamda, Cherif C; Mighri, Najah N; El Benna, Houda H; Mejri, Nesrine N; Labidi, Soumaya S; Daoud, Nouha N; Naouali, Chokri C; Messaoud, Olfa O; Chargui, Mariem M; Ghedira, Kais K; Boubaker, Mohamed Samir MS; Mrad, Ridha R; Boussen, Hamouda H; Abdelhak, Sonia S; ,

Publication Date: 2018-06-07

Variant appearance in text: BRCA2: 8830A>T; rs4987047

PubMed Link: 29879995

Variant Present in the following documents:

• Main text

View BVdb publication page

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Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.

Bmc Medical Genetics

Elimam, Alsmawal A AA; Aabdein, Mohamed Elmogtba Mouaweia Mohamed MEMM; Eldeen, Mohamed El-Fatih Moly MEM; Altayb, Hisham N HN; Taha, Mohamed Adel MA; Nimir, Mohammed N MN; Dafaalla, Mohamed D MD; Alfaki, Musaab M MM; Abdelrahim, Mohamed A MA; Abdalla, Abdelmohaymin A AA; Mohammed, Musab I MI; Ellaithi, Mona M; Hamid, Muzamil Mahdi Abdel MMA; Hassan, Mohamed Ahmed Salih MAS

Publication Date: 2017-08-16

Variant appearance in text: BRCA2: 8830A>T

PubMed Link: 28814288

Variant Present in the following documents:

• 12881_2017_Article_448.pdf

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: 8830A>T; Ile2944Phe

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women.

Ethnicity & Disease

Ricks-Santi, Luisel L; McDonald, J Tyson JT; Gold, Bert B; Dean, Michael M; Thompson, Nicole N; Abbas, Muneer M; Wilson, Bradford B; Kanaan, Yasmine Y; Naab, Tammey J TJ; Dunston, Georgia G

Publication Date: 2017

Variant appearance in text: BRCA2: Ile2944Phe

PubMed Link: 28439188

Variant Present in the following documents:

• Main text

View BVdb publication page

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Performance Characterization and Validation of Saliva as an Alternative Specimen Source for Detecting Hereditary Breast Cancer Mutations by Next Generation Sequencing.

International Journal Of Genomics

Meghnani, Varsha V; Mohammed, Nadeem N; Giauque, Christopher C; Nahire, Rahul R; David, Thomas T

Publication Date: 2016

Variant appearance in text: BRCA2: 8830A>T

PubMed Link: 27818992

Variant Present in the following documents:

• Main text
• IJG2016-2059041.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: BRCA2: I2944F

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: BRCA2: I2944F; rs4987047

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs4987047

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

Bmc Medical Genetics

Silva, Felipe C FC; Lisboa, Bianca Cg BC; Figueiredo, Marcia Cp MC; Torrezan, Giovana T GT; Santos, Erika Mm EM; Krepischi, Ana C AC; Rossi, Benedito M BM; Achatz, Maria I MI; Carraro, Dirce M DM

Publication Date: 2014-05-15

Variant appearance in text: BRCA2: I2944F

PubMed Link: 24884479

Variant Present in the following documents:

• Main text
• 1471-2350-15-55.pdf

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: BRCA2: I2944F; rs4987047

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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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: Ile2944Phe

PubMed Link: 24323938

Variant Present in the following documents:

• Main text

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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: I2944F; rs4987047

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s008.xlsx, sheet 1
• pgen.1003419.s009.xlsx, sheet 1

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Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

Plos One

Carraro, Dirce Maria DM; Koike Folgueira, Maria Aparecida Azevedo MA; Garcia Lisboa, Bianca Cristina BC; Ribeiro Olivieri, Eloisa Helena EH; Vitorino Krepischi, Ana Cristina AC; de Carvalho, Alex Fiorini AF; de Carvalho Mota, Louise Danielle LD; Puga, Renato David RD; do Socorro Maciel, Maria M; Michelli, Rodrigo Augusto Depieri RA; de Lyra, Eduardo Carneiro EC; Grosso, Stana Helena Giorgi SH; Soares, Fernando Augusto FA; Achatz, Maria Isabel Alves de Souza Waddington MI; Brentani, Helena H; Moreira-Filho, Carlos Alberto CA; Brentani, Maria Mitzi MM

Publication Date: 2013

Variant appearance in text: BRCA2: I2944F

PubMed Link: 23469205

Variant Present in the following documents:

• Main text
• pone.0057581.pdf

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BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Disease Markers

Cherbal, Farid F; Salhi, Nadjet N; Bakour, Rabah R; Adane, Saida S; Boualga, Kada K; Maillet, Philippe P

Publication Date: 2012

Variant appearance in text: BRCA2: 8830A>T; Ile2944Phe; rs4987047

PubMed Link: 22684231

Variant Present in the following documents:

• DM32-06-234136.pdf

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Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

Human Molecular Genetics

Biswas, Kajal K; Das, Ranabir R; Eggington, Julie M JM; Qiao, Huanyu H; North, Susan L SL; Stauffer, Stacey S; Burkett, Sandra S SS; Martin, Betty K BK; Southon, Eileen E; Sizemore, Scott C SC; Pruss, Dmitry D; Bowles, Karla R KR; Roa, Benjamin B BB; Hunter, Neil N; Tessarollo, Lino L; Wenstrup, Richard J RJ; Byrd, R Andrew RA; Sharan, Shyam K SK

Publication Date: 2012-09-15

Variant appearance in text: BRCA2: 8830A>T; Ile2944Phe; rs4987047

PubMed Link: 22678057

Variant Present in the following documents:

• Main text

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Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

Cancer Informatics

Karchin, Rachel R; Agarwal, Mukesh M; Sali, Andrej A; Couch, Fergus F; Beattie, Mary S MS

Publication Date: 2008

Variant appearance in text: BRCA2: I2944F

PubMed Link: 19043619

Variant Present in the following documents:

• Main text

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Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

Breast Cancer Research : Bcr

Lee, Eunjung E; McKean-Cowdin, Roberta R; Ma, Huiyan H; Chen, Zhengjia Z; Van Den Berg, David D; Henderson, Brian E BE; Bernstein, Leslie L; Ursin, Giske G

Publication Date: 2008

Variant appearance in text: BRCA2: I2944F

PubMed Link: 18284688

Variant Present in the following documents:

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Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.

Bmc Genetics

van der Heijden, Michiel S MS; Brody, Jonathan R JR; Elghalbzouri-Maghrani, Elhaam E; Zdzienicka, Malgorzata Z MZ; Kern, Scott E SE

Publication Date: 2006-01-17

Variant appearance in text: BRCA2: I2944F

PubMed Link: 16417627

Variant Present in the following documents:

• Main text

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