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: Y42C

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: rs4987046

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

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: 125A>G; Tyr42Cys; rs4987046

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: 125A>G; Y42C; rs4987046

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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Culture media composition influences patient-derived organoids ability to predict therapeutic response in gastrointestinal cancers.

Jci Insight

Hogenson, Tara L TL; Xie, Hao H; Phillips, William J WJ; Toruner, Merih D MD; Li, Jenny J JJ; Horn, Isaac P IP; Kennedy, Devin J DJ; Almada, Luciana L LL; Marks, David L DL; Carr, Ryan M RM; Toruner, Murat M; Sigafoos, Ashley N AN; Koenig-Kappes, Amanda N AN; Olson, Rachel Lo RL; Tolosa, Ezequiel J EJ; Zhang, Cheng C; Li, Hu H; Doles, Jason D JD; Bleeker, Jonathan J; Barrett, Michael T MT; Boyum, James H JH; Kipp, Benjamin R BR; Mahipal, Amit A; Hubbard, Joleen M JM; Scheffler Hanson, Temperance J TJ; Petersen, Gloria M GM; Dasari, Surendra S; Oberg, Ann L AL; Truty, Mark J MJ; Graham, Rondell P RP; Levy, Michael J MJ; Zhu, Mojun M; Billadeau, Daniel D DD; Adjei, Alex A AA; Dusetti, Nelson N; Iovanna, Juan L JL; Bekaii-Saab, Tanios S TS; Ma, Wen Wee WW; Fernandez-Zapico, Martin E ME

Publication Date: 2022-10-18

Variant appearance in text: BRCA2: 125A>G

PubMed Link: 36256477

Variant Present in the following documents:

• jciinsight-7-158060-s064.pdf

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: Tyr42Cys; rs4987046

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: Y42C

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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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: BRCA2: Y42C

PubMed Link: 35693198

Variant Present in the following documents:

• Main text
• pby010.pdf

View BVdb publication page

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: BRCA2: 125A>G; rs4987046

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

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Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance

Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM

Publication Date: 2022-05

Variant appearance in text: BRCA2: 125A>G; Y42C

PubMed Link: 35165121

Variant Present in the following documents:

• LSA-2021-01263_TableS1.xlsx, sheet 1

View BVdb publication page

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Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.

Hgg Advances

Loke, Johnny J; Alim, Ishraq I; Yam, Sarah S; Klugman, Susan S; Xia, Li C LC; Gruber, Dorota D; Tegay, David D; LaBella, Andrea A; Onel, Kenan K; Ostrer, Harry H

Publication Date: 2022-04-14

Variant appearance in text: BRCA2: 125A>G

PubMed Link: 35146455

Variant Present in the following documents:

• mmc4.pdf
• mmc1.pdf

View BVdb publication page

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Understanding BRCA2 Function as a Tumor Suppressor Based on Domain-Specific Activities in DNA Damage Responses.

Genes

Andreassen, Paul R PR; Seo, Joonbae J; Wiek, Constanze C; Hanenberg, Helmut H

Publication Date: 2021-07-02

Variant appearance in text: BRCA2: Y42C

PubMed Link: 34356050

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline and Somatic mutations in postmenopausal breast cancer patients.

Clinics (Sao Paulo, Brazil)

Nagy, Tauana Rodrigues TR; Maistro, Simone S; Encinas, Giselly G; Katayama, Maria Lucia Hirata MLH; Pereira, Glaucia Fernanda de Lima GFL; Gaburo-Júnior, Nelson N; Franco, Lucas Augusto Moyses LAM; Gouvêa, Ana Carolina Ribeiro Chaves de ACRC; Diz, Maria Del Pilar Estevez MDPE; Leite, Luiz Antonio Senna LAS; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2021

Variant appearance in text: BRCA2: 125A>G; Y42C; rs4987046

PubMed Link: 34287479

Variant Present in the following documents:

• Main text
• cln-76-2837.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: 125A>G; Y42C; rs4987046

PubMed Link: 34253785

Variant Present in the following documents:

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

View BVdb publication page

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Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis.

Global Medical Genetics

Poon, Kok-Siong KS; Chiu, Lily L; Tan, Karen Mei-Ling KM

Publication Date: 2021-06

Variant appearance in text: BRCA2: Tyr42Cys

PubMed Link: 33987625

Variant Present in the following documents:

• Main text
• 10-1055-s-0041-1726338.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: 125A>G; Tyr42Cys; rs4987046

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: 125A>G; Tyr42Cys; rs4987046

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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Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology

Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X

Publication Date: 2021-03-10

Variant appearance in text: BRCA2: Y42C

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: BRCA2: 125A>G; Tyr42Cys; rs4987046

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Cancer Science

Yoshida, Reiko R; Hagio, Taichi T; Kaneyasu, Tomoko T; Gotoh, Osamu O; Osako, Tomo T; Tanaka, Norio N; Amino, Sayuri S; Yaguchi, Noriko N; Nakashima, Eri E; Kitagawa, Dai D; Ueno, Takayuki T; Ohno, Shinji S; Nakajima, Takeshi T; Nakamura, Seigo S; Miki, Yoshio Y; Hirota, Toru T; Takahashi, Shunji S; Matsuura, Masaaki M; Noda, Tetsuo T; Mori, Seiichi S

Publication Date: 2021-03

Variant appearance in text: BRCA2: Y42C

PubMed Link: 33421217

Variant Present in the following documents:

• Main text
• CAS-112-1310-s003.xlsx, sheet 1
• CAS-112-1310.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: Y42C

PubMed Link: 32444794

Variant Present in the following documents:

• 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: 125A>G; Tyr42Cys

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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BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific.

Colombia Medica (Cali, Colombia)

Cifuentes-C, Laura L; Rivera-Herrera, Ana Lucia AL; Barreto, Guillermo G

Publication Date: 2019-09-30

Variant appearance in text: BRCA2: 125A>G; Tyr42Cys

PubMed Link: 32284662

Variant Present in the following documents:

• Main text
• 1657-9534-cm-50-03-00163.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: 125A>G; Tyr42Cys; rs4987046

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 1
• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2

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: 125A>G; Y42C; rs4987046

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Profiling of Circulating Free DNA Using Targeted and Genome-wide Sequencing in Patients with SCLC.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Mohan, Sumitra S; Foy, Victoria V; Ayub, Mahmood M; Leong, Hui Sun HS; Schofield, Pieta P; Sahoo, Sudhakar S; Descamps, Tine T; Kilerci, Bedirhan B; Smith, Nigel K NK; Carter, Mathew M; Priest, Lynsey L; Zhou, Cong C; Carr, T Hedley TH; Miller, Crispin C; Faivre-Finn, Corinne C; Blackhall, Fiona F; Rothwell, Dominic G DG; Dive, Caroline C; Brady, Gerard G

Publication Date: 2020-02

Variant appearance in text: BRCA2: 125A>G; Tyr42Cys

PubMed Link: 31629061

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 5

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: 125A>G; Y42C

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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Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.

Melanoma Research

Johansson, Peter A PA; Nathan, Vaishnavi V; Bourke, Lauren M LM; Palmer, Jane M JM; Zhang, Tongwu T; Symmons, Judith J; Howlie, Madeleine M; Patch, Ann-Marie AM; Read, Jazlyn J; Holland, Elizabeth A EA; Schmid, Helen H; Warrier, Sunil S; Glasson, William W; Höiom, Veronica V; Wadt, Karin K; Jönsson, Göran G; Olsson, Håkan H; Ingvar, Christian C; Mann, Graham G; Brown, Kevin M KM; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2019-10

Variant appearance in text: BRCA2: Y42C; rs4987046

PubMed Link: 31464824

Variant Present in the following documents:

• Main text

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: Y42C

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 58

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: BRCA2: Y42C

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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PD-1+ regulatory T cells amplified by PD-1 blockade promote hyperprogression of cancer.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Kamada, Takahiro T; Togashi, Yosuke Y; Tay, Christopher C; Ha, Danbee D; Sasaki, Akinori A; Nakamura, Yoshiaki Y; Sato, Eiichi E; Fukuoka, Shota S; Tada, Yasuko Y; Tanaka, Atsushi A; Morikawa, Hiromasa H; Kawazoe, Akihito A; Kinoshita, Takahiro T; Shitara, Kohei K; Sakaguchi, Shimon S; Nishikawa, Hiroyoshi H

Publication Date: 2019-05-14

Variant appearance in text: BRCA2: Tyr42Cys

PubMed Link: 31028147

Variant Present in the following documents:

• pnas.1822001116.sapp.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: Y42C

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: 125A>G; Tyr42Cys

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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PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Journal Of Experimental & Clinical Cancer Research : Cr

Mlakar, Vid V; Jurkovic Mlakar, Simona S; Lesne, Laurence L; Marino, Denis D; Rathi, Komal S KS; Maris, John M JM; Ansari, Marc M; Gumy-Pause, Fabienne F

Publication Date: 2019-02-12

Variant appearance in text: BRCA2: Y42C

PubMed Link: 30755224

Variant Present in the following documents:

• 13046_2019_1066_MOESM1_ESM.xlsx, sheet 3

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: 125A>G; Y42C; rs4987046

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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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: BRCA2: Y42C; rs4987046

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
• 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: BRCA2: 125A>G; Tyr42Cys; rs4987046

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_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: 125A>G; Y42C

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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The functional impact of variants of uncertain significance in BRCA2.

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

Mesman, Romy L S RLS; Calléja, Fabienne M G R FMGR; Hendriks, Giel G; Morolli, Bruno B; Misovic, Branislav B; Devilee, Peter P; van Asperen, Christi J CJ; Vrieling, Harry H; Vreeswijk, Maaike P G MPG

Publication Date: 2019-02

Variant appearance in text: BRCA2: 125A>G; Tyr42Cys

PubMed Link: 29988080

Variant Present in the following documents:

• Main text
• 41436_2018_Article_52.pdf

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: Y42C

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Somatic mutations in early onset luminal breast cancer.

Oncotarget

Encinas, Giselly G; Sabelnykova, Veronica Y VY; de Lyra, Eduardo Carneiro EC; Hirata Katayama, Maria Lucia ML; Maistro, Simone S; de Vasconcellos Valle, Pedro Wilson Mompean PWM; de Lima Pereira, Gláucia Fernanda GF; Rodrigues, Lívia Munhoz LM; de Menezes Pacheco Serio, Pedro Adolpho PA; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Geyer, Felipe Correa FC; Basso, Ricardo Alves RA; Pasini, Fátima Solange FS; Del Pilar Esteves Diz, Maria M; Brentani, Maria Mitzi MM; Guedes Sampaio Góes, João Carlos JC; Chammas, Roger R; Boutros, Paul C PC; Koike Folgueira, Maria Aparecida Azevedo MAA

Publication Date: 2018-04-27

Variant appearance in text: BRCA2: 125A>G; Y42C; rs4987046

PubMed Link: 29854292

Variant Present in the following documents:

• oncotarget-09-22460-s002.xlsx, sheet 3

View BVdb publication page

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Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.

The Application Of Clinical Genetics

Shah, Nidhi D ND; Shah, Parth S PS; Panchal, Yash Y YY; Katudia, Kalpesh H KH; Khatri, Nikunj B NB; Ray, Hari Shankar P HSP; Bhatiya, Upti R UR; Shah, Sandip C SC; Shah, Bhavini S BS; Rao, Mandava V MV

Publication Date: 2018

Variant appearance in text: BRCA2: 125A>G; Tyr42Cys; rs4987046

PubMed Link: 29785135

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fanconi anemia and homologous recombination gene variants are associated with functional DNA repair defects in vitro and poor outcome in patients with advanced head and neck squamous cell carcinoma.

Oncotarget

Verhagen, Caroline V M CVM; Vossen, David M DM; Borgmann, Kerstin K; Hageman, Floor F; Grénman, Reidar R; Verwijs-Janssen, Manon M; Mout, Lisanne L; Kluin, Roel J C RJC; Nieuwland, Marja M; Severson, Tesa M TM; Velds, Arno A; Kerkhoven, Ron R; O'Connor, Mark J MJ; van der Heijden, Martijn M; van Velthuysen, Marie-Louise ML; Verheij, Marcel M; Wreesmann, Volkert B VB; Wessels, Lodewyk F A LFA; van den Brekel, Michiel W M MWM; Vens, Conchita C

Publication Date: 2018-04-06

Variant appearance in text: BRCA2: Y42C; rs4987046

PubMed Link: 29719599

Variant Present in the following documents:

• oncotarget-09-18198-s001.pdf

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Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Oncotarget

Caputo, Sandrine M SM; Léone, Mélanie M; Damiola, Francesca F; Ehlen, Asa A; Carreira, Aura A; Gaidrat, Pascaline P; Martins, Alexandra A; Brandão, Rita D RD; Peixoto, Ana A; Vega, Ana A; Houdayer, Claude C; Delnatte, Capucine C; Bronner, Myriam M; Muller, Danièle D; Castera, Laurent L; Guillaud-Bataille, Marine M; Søkilde, Inge I; Uhrhammer, Nancy N; Demontety, Sophie S; Tubeuf, Hélène H; Castelain, Gaïa G; , ; Jensen, Uffe Birk UB; Petitalot, Ambre A; Krieger, Sophie S; Lefol, Cédrick C; Moncoutier, Virginie V; Boutry-Kryza, Nadia N; Nielsen, Henriette Roed HR; Sinilnikova, Olga O; Stoppa-Lyonnet, Dominique D; Spurdle, Amanda B AB; Teixeira, Manuel R MR; Coulet, Florence F; Thomassen, Mads M; Rouleau, Etienne E

Publication Date: 2018-04-03

Variant appearance in text: BRCA2: 125A>G

PubMed Link: 29707112

Variant Present in the following documents:

• Main text
• oncotarget-09-17334.pdf

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: 125A>G; Tyr42Cys; rs4987046

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 1
• 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: Y42C

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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Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.

Plos One

Schenk, Desiree D; Song, Gang G; Ke, Yue Y; Wang, Zhaohui Z

Publication Date: 2017

Variant appearance in text: BRCA2: 125A>G; Tyr42Cys; rs4987046

PubMed Link: 28704513

Variant Present in the following documents:

• pone.0181062.s004.xlsx, sheet 1

View BVdb publication page

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Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

Cancer

Chandrasekharappa, Settara C SC; Chinn, Steven B SB; Donovan, Frank X FX; Chowdhury, Naweed I NI; Kamat, Aparna A; Adeyemo, Adebowale A AA; Thomas, James W JW; Vemulapalli, Meghana M; Hussey, Caroline S CS; Reid, Holly H HH; Mullikin, James C JC; Wei, Qingyi Q; Sturgis, Erich M EM

Publication Date: 2017-10-15

Variant appearance in text: BRCA2: 125A>G

PubMed Link: 28678401

Variant Present in the following documents:

• Main text

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: 125A>G; Tyr42Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.

Cancer Research And Treatment

Hwang, Sang Mee SM; Lee, Ki Chan KC; Lee, Min Seob MS; Park, Kyoung Un KU

Publication Date: 2018-01

Variant appearance in text: BRCA2: 125A>G; Tyr42Cys; rs4987046

PubMed Link: 28392550

Variant Present in the following documents:

• Main text
• crt-2017-062.pdf

View BVdb publication page

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Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One

He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM

Publication Date: 2016

Variant appearance in text: BRCA2: Y42C; rs4987046

PubMed Link: 27930734

Variant Present in the following documents:

• pone.0167847.s002.xls, sheet 1

View BVdb publication page

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Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.

Oncotarget

Enyedi, Márton Zsolt ; Jaksa, Gábor G; Pintér, Lajos L; Sükösd, Farkas F; Gyuris, Zoltán Z; Hajdu, Adrienn A; Határvölgyi, Erika E; Priskin, Katalin K; Haracska, Lajos L

Publication Date: 2016-09-20

Variant appearance in text: BRCA2: 125A>G

PubMed Link: 27533253

Variant Present in the following documents:

• Main text
• oncotarget-07-61845.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: BRCA2: 125A>G; Y42C; rs4987046

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.

Peerj

Kang, Hyunseok P HP; Maguire, Jared R JR; Chu, Clement S CS; Haque, Imran S IS; Lai, Henry H; Mar-Heyming, Rebecca R; Ready, Kaylene K; Vysotskaia, Valentina S VS; Evans, Eric A EA

Publication Date: 2016

Variant appearance in text: BRCA2: 125A>G; Tyr42Cys

PubMed Link: 27375968

Variant Present in the following documents:

• peerj-04-2162-s004.xlsx, sheet 1

View BVdb publication page

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A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Bmc Medical Genomics

Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK

Publication Date: 2016-04-11

Variant appearance in text: BRCA2: 125A>G; Tyr42Cys; rs4987046

PubMed Link: 27067391

Variant Present in the following documents:

• 12920_2016_178_MOESM14_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs4987046

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: BRCA2: 125A>G; rs4987046

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5

View BVdb publication page

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Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Plos One

Strom, Charles M CM; Rivera, Steven S; Elzinga, Christopher C; Angeloni, Taraneh T; Rosenthal, Sun Hee SH; Goos-Root, Dana D; Siaw, Martin M; Platt, Jamie J; Braastadt, Cory C; Cheng, Linda L; Ross, David D; Sun, Weimin W

Publication Date: 2015

Variant appearance in text: BRCA2: 125A>G; Tyr42Cys

PubMed Link: 26295337

Variant Present in the following documents:

• Main text
• pone.0136419.pdf

View BVdb publication page

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