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: D1420Y

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: rs28897727

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: 4258G>T; Asp1420Tyr; rs28897727

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s001.xlsx, sheet 3

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: 4258G>T; D1420Y; rs28897727

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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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: BRCA2: D1420Y

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Nature Communications

Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V

Publication Date: 2022-09-07

Variant appearance in text: BRCA2: 4258G>T; D1420Y

PubMed Link: 36071033

Variant Present in the following documents:

• 41467_2022_32828_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Array genotyping as diagnostic approach in medical genetics.

Molecular Genetics & Genomic Medicine

Witsch-Baumgartner, Martina M; Schwaninger, Gunda G; Schnaiter, Simon S; Kollmann, Franziska F; Burkhard, Silja S; Gröbner, Rebekka R; Mühlegger, Beatrix B; Schamschula, Esther E; Kirchmeier, Peter P; Zschocke, Johannes J

Publication Date: 2022-09

Variant appearance in text: BRCA2: 4258G>T

PubMed Link: 35912641

Variant Present in the following documents:

• MGG3-10-e2016.pdf

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: BRCA2: 4258G>T; Asp1420Tyr; rs28897727

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Gervas, Polina P; Molokov, Aleksey A; Babyshkina, Nataliya N; Kiselev, Artem A; Zarubin, Aleksei A; Yumov, Evgeny E; Pisareva, Lubov L; Choynzonov, Evgeny E; Cherdyntseva, Nadezda N

Publication Date: 2022-06-01

Variant appearance in text: rs28897727

PubMed Link: 35763645

Variant Present in the following documents:

• Main text
• APJCP-23-2027.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: D1420Y

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: D1420Y

PubMed Link: 35693198

Variant Present in the following documents:

• Main text
• pby010.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: BRCA2: 4258G>T; D1420Y; rs28897727

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

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: 4258G>T; D1420Y

PubMed Link: 35165121

Variant Present in the following documents:

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

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: 4258G>T; D1420Y; rs28897727

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: 4258G>T; Asp1420Tyr; rs28897727

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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: 4258G>T; Asp1420Tyr; rs28897727

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: 4258G>T; Asp1420Tyr; rs28897727

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: 4258G>T; Asp1420Tyr

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 8

View BVdb publication page

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DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.

Genome Research

Giacopelli, Brian B; Wang, Min M; Cleary, Ada A; Wu, Yue-Zhong YZ; Schultz, Anna Reister AR; Schmutz, Maximilian M; Blachly, James S JS; Eisfeld, Ann-Kathrin AK; Mundy-Bosse, Bethany B; Vosberg, Sebastian S; Greif, Philipp A PA; Claus, Rainer R; Bullinger, Lars L; Garzon, Ramiro R; Coombes, Kevin R KR; Bloomfield, Clara D CD; Druker, Brian J BJ; Tyner, Jeffrey W JW; Byrd, John C JC; Oakes, Christopher C CC

Publication Date: 2021-05

Variant appearance in text: BRCA2: Asp1420Tyr

PubMed Link: 33707228

Variant Present in the following documents:

• supp_gr.269233.120_Supplemental_Tables_S1_S2_S8-11.xlsx, sheet 5

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: 4258G>T; Asp1420Tyr; rs28897727

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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Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One

Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R

Publication Date: 2021

Variant appearance in text: BRCA2: D1420Y

PubMed Link: 33556149

Variant Present in the following documents:

• pone.0246048.s006.xlsx, sheet 1

View BVdb publication page

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Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).

Journal Of Medical Genetics

Hauke, Jan J; Harter, Philipp P; Ernst, Corinna C; Burges, Alexander A; Schmidt, Sandra S; Reuss, Alexander A; Borde, Julika J; De Gregorio, Nikolaus N; Dietrich, Dimo D; El-Balat, Ahmed A; Kayali, Mohamad M; Gevensleben, Heidrun H; Hilpert, Felix F; Altmüller, Janine J; Heimbach, André A; Meier, Werner W; Schoemig-Markiefka, Birgid B; Thiele, Holger H; Kimmig, Rainer R; Nürnberg, Peter P; Kast, Karin K; Richters, Lisa L; Sehouli, Jalid J; Schmutzler, Rita K RK; Hahnen, Eric E

Publication Date: 2022-03

Variant appearance in text: BRCA2: 4258G>T; Asp1420Tyr

PubMed Link: 33273034

Variant Present in the following documents:

• jmedgenet-2020-107353supp001.pdf

View BVdb publication page

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Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Plos One

Bishop, Madison R MR; Omeler-Fenaud, Sophonie M SM; Huskey, Anna L W ALW; Merner, Nancy D ND

Publication Date: 2020

Variant appearance in text: BRCA2: D1420Y

PubMed Link: 32866190

Variant Present in the following documents:

• pone.0238295.s002.xlsx, sheet 1

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: D1420Y

PubMed Link: 32444794

Variant Present in the following documents:

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

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: 4258G>T; Asp1420Tyr

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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Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications

Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA

Publication Date: 2020-04-24

Variant appearance in text: BRCA2: 4258G>T; Asp1420Tyr

PubMed Link: 32332851

Variant Present in the following documents:

• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3
• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics

da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA

Publication Date: 2020-02-10

Variant appearance in text: BRCA2: Asp1420Tyr; rs28897727

PubMed Link: 32039725

Variant Present in the following documents:

• Main text
• 12920_2019_Article_652.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: 4258G>T; D1420Y; rs28897727

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: 4258G>T; D1420Y; rs28897727

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: 4258G>T; D1420Y

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: D1420Y; rs28897727

PubMed Link: 31464824

Variant Present in the following documents:

• Main text

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: D1420Y

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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: D1420Y

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: 4258G>T; Asp1420Tyr

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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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: BRCA2: D1420Y

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

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: 4258G>T; D1420Y; rs28897727

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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Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors.

Oncotarget

Ahlborn, Lise Barlebo LB; Tuxen, Ida Viller IV; Mouliere, Florent F; Kinalis, Savvas S; Schmidt, Ane Y AY; Rohrberg, Kristoffer Staal KS; Santoni-Rugiu, Eric E; Nielsen, Finn Cilius FC; Lassen, Ulrik U; Yde, Christina Westmose CW; Oestrup, Olga O; Mau-Sorensen, Morten M

Publication Date: 2018-08-24

Variant appearance in text: BRCA2: 4258G>T; D1420Y

PubMed Link: 30220966

Variant Present in the following documents:

• oncotarget-09-32570-s003.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: 4258G>T; D1420Y

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Targeted DNA sequencing of non-small cell lung cancer identifies mutations associated with brain metastases.

Oncotarget

Wilson, George D GD; Johnson, Matthew D MD; Ahmed, Samreen S; Cardenas, Paola Yumpo PY; Grills, Inga S IS; Thibodeau, Bryan J BJ

Publication Date: 2018-05-25

Variant appearance in text: BRCA2: 4258G>T; D1420Y

PubMed Link: 29899834

Variant Present in the following documents:

• oncotarget-09-25957-s003.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: D1420Y

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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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: 4258G>T; D1420Y; rs28897727

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: 4258G>T; Asp1420Tyr; rs28897727

PubMed Link: 29785135

Variant Present in the following documents:

• Main text
• tacg-11-059.pdf

View BVdb publication page

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Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics

Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E

Publication Date: 2018-02-20

Variant appearance in text: BRCA2: D1420Y; rs28897727

PubMed Link: 29458332

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic BRCA1 mutations in clinically sporadic breast cancer with medullary histological features.

Journal Of Cancer Research And Clinical Oncology

Rechsteiner, Markus M; Dedes, Konstantin K; Fink, Daniel D; Pestalozzi, Bernhard B; Sobottka, Bettina B; Moch, Holger H; Wild, Peter P; Varga, Zsuzsanna Z

Publication Date: 2018-05

Variant appearance in text: BRCA2: 4258G>T; Asp1420Tyr; rs28897727

PubMed Link: 29453630

Variant Present in the following documents:

• Main text

View BVdb publication page

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Simultaneous detection of genetic and copy number alterations in BRCA1/2 genes.

Oncotarget

Hirotsu, Yosuke Y; Ooka, Yoshihiko Y; Sakamoto, Ikuko I; Nakagomi, Hiroshi H; Omata, Masao M

Publication Date: 2017-12-29

Variant appearance in text: BRCA2: 4258G>T; D1420Y

PubMed Link: 29383094

Variant Present in the following documents:

• Main text
• oncotarget-08-114463.pdf

View BVdb publication page

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A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.

British Journal Of Cancer

Ellison, Gillian G; Wallace, Andrew A; Kohlmann, Alexander A; Patton, Simon S

Publication Date: 2017-08-22

Variant appearance in text: BRCA2: 4258G>T

PubMed Link: 28751759

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel molecular diagnostics platform for somatic and germline precision oncology.

Molecular Genetics & Genomic Medicine

Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J

Publication Date: 2017-07

Variant appearance in text: BRCA2: 4258G>T; D1420Y

PubMed Link: 28717660

Variant Present in the following documents:

• Main text
• MGG3-5-336.pdf

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: 4258G>T; Asp1420Tyr; rs28897727

PubMed Link: 28704513

Variant Present in the following documents:

• pone.0181062.s004.xlsx, sheet 1

View BVdb publication page

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Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Molecular Cancer

Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA

Publication Date: 2017-07-06

Variant appearance in text: BRCA2: D1420Y; rs28897727

PubMed Link: 28683746

Variant Present in the following documents:

• 12943_2017_691_MOESM1_ESM.xlsx, sheet 5

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: 4258G>T; Asp1420Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

Cancer Research

Shimelis, Hermela H; Mesman, Romy L S RLS; Von Nicolai, Catharina C; Ehlen, Asa A; Guidugli, Lucia L; Martin, Charlotte C; Calléja, Fabienne M G R FMGR; Meeks, Huong H; Hallberg, Emily E; Hinton, Jamie J; Lilyquist, Jenna J; Hu, Chunling C; Aalfs, Cora M CM; Aittomäki, Kristiina K; Andrulis, Irene I; Anton-Culver, Hoda H; Arndt, Volker V; Beckmann, Matthias W MW; Benitez, Javier J; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Borresen-Dale, Anne-Lise AL; Brauch, Hiltrud H; Brennan, Paul P; Brenner, Hermann H; Broeks, Annegien A; Brouwers, Barbara B; Brüning, Thomas T; Burwinkel, Barbara B; Chang-Claude, Jenny J; Chenevix-Trench, Georgia G; Cheng, Ching-Yu CY; Choi, Ji-Yeob JY; Collée, J Margriet JM; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Darabi, Hatef H; Dennis, Joe J; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Dunning, Alison M AM; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Hartman, Mikael M; Hogervorst, Frans B FB; Hollestelle, Antoinette A; Hopper, John L JL; Ito, Hidemi H; Jakubowska, Anna A; Kang, Daehee D; Kosma, Veli-Matti VM; Kristensen, Vessela V; Lai, Kah-Nyin KN; Lambrechts, Diether D; Marchand, Loic Le LL; Li, Jingmei J; Lindblom, Annika A; Lophatananon, Artitaya A; Lubinski, Jan J; Machackova, Eva E; Mannermaa, Arto A; Margolin, Sara S; Marme, Frederik F; Matsuo, Keitaro K; Miao, Hui H; Michailidou, Kyriaki K; Milne, Roger L RL; Muir, Kenneth K; Neuhausen, Susan L SL; Nevanlinna, Heli H; Olson, Janet E JE; Olswold, Curtis C; Oosterwijk, Jan J C JJC; Osorio, Ana A; Peterlongo, Paolo P; Peto, Julian J; Pharoah, Paul D P PDP; Pylkäs, Katri K; Radice, Paolo P; Rashid, Muhammad Usman MU; Rhenius, Valerie V; Rudolph, Anja A; Sangrajrang, Suleeporn S; Sawyer, Elinor J EJ; Schmidt, Marjanka K MK; Schoemaker, Minouk J MJ; Seynaeve, Caroline C; Shah, Mitul M; Shen, Chen-Yang CY; Shrubsole, Martha M; Shu, Xiao-Ou XO; Slager, Susan S; Southey, Melissa C MC; Stram, Daniel O DO; Swerdlow, Anthony A; Teo, Soo H SH; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; van der Kolk, Lizet E LE; Wang, Qin Q; Winqvist, Robert R; Wu, Anna H AH; Yu, Jyh-Cherng JC; Zheng, Wei W; Zheng, Ying Y; Leary, Jennifer J; Walker, Logan L; Foretova, Lenka L; Fostira, Florentia F; Claes, Kathleen B M KBM; Varesco, Liliana L; Moghadasi, Setareh S; Easton, Douglas F DF; Spurdle, Amanda A; Devilee, Peter P; Vrieling, Harry H; Monteiro, Alvaro N A ANA; Goldgar, David E DE; Carreira, Aura A; Vreeswijk, Maaike P G MPG; Couch, Fergus J FJ; , ; ,

Publication Date: 2017-06-01

Variant appearance in text: BRCA2: 4258G>T; D1420Y

PubMed Link: 28283652

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation sequencing in familial breast cancer patients from Lebanon.

Bmc Medical Genomics

Jalkh, Nadine N; Chouery, Eliane E; Haidar, Zahraa Z; Khater, Christina C; Atallah, David D; Ali, Hamad H; Marafie, Makia J MJ; Al-Mulla, Mohamed R MR; Al-Mulla, Fahd F; Megarbane, Andre A

Publication Date: 2017-02-15

Variant appearance in text: BRCA2: D1420Y

PubMed Link: 28202063

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Scientific Reports

Castellanos, Elisabeth E; Gel, Bernat B; Rosas, Inma I; Tornero, Eva E; Santín, Sheila S; Pluvinet, Raquel R; Velasco, Juan J; Sumoy, Lauro L; Del Valle, Jesús J; Perucho, Manuel M; Blanco, Ignacio I; Navarro, Matilde M; Brunet, Joan J; Pineda, Marta M; Feliubadaló, Lidia L; Capellá, Gabi G; Lázaro, Conxi C; Serra, Eduard E

Publication Date: 2017-01-04

Variant appearance in text: BRCA2: D1420Y

PubMed Link: 28051113

Variant Present in the following documents:

• srep39348.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: D1420Y; rs28897727

PubMed Link: 27930734

Variant Present in the following documents:

• pone.0167847.s002.xls, sheet 1

View BVdb publication page

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Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Human Mutation

Weren, Robbert D A RD; Mensenkamp, Arjen R AR; Simons, Michiel M; Eijkelenboom, Astrid A; Sie, Aisha S AS; Ouchene, Hicham H; van Asseldonk, Monique M; Gomez-Garcia, Encarna B EB; Blok, Marinus J MJ; de Hullu, Joanne A JA; Nelen, Marcel R MR; Hoischen, Alexander A; Bulten, Johan J; Tops, Bastiaan B J BB; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn J L MJ

Publication Date: 2017-02

Variant appearance in text: BRCA2: 4258G>T

PubMed Link: 27767231

Variant Present in the following documents:

• HUMU-38-226-s002.xlsx, sheet 3

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: D1420Y

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency.

Journal Of The Turkish German Gynecological Association

Yılmaz, Nafiye Karakaş NK; Karagin, Peren Hatice PH; Terzi, Yunus Kasım YK; Kahyaoğlu, İnci İ; Yılmaz, Saynur S; Erkaya, Salim S; Şahin, Feride İffet Fİ

Publication Date: 2016

Variant appearance in text: BRCA2: 4258G>T; D1420Y

PubMed Link: 27403073

Variant Present in the following documents:

• Main text

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: rs28897727

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Genome Medicine

Wang, Jinlian J; Liao, Jun J; Zhang, Jinglan J; Cheng, Wei-Yi WY; Hakenberg, Jörg J; Ma, Meng M; Webb, Bryn D BD; Ramasamudram-Chakravarthi, Rajasekar R; Karger, Lisa L; Mehta, Lakshmi L; Kornreich, Ruth R; Diaz, George A GA; Li, Shuyu S; Edelmann, Lisa L; Chen, Rong R

Publication Date: 2015-07-29

Variant appearance in text: BRCA2: 4258G>T; D1420Y

PubMed Link: 26338694

Variant Present in the following documents:

• 13073_2015_207_MOESM1_ESM.xlsx, sheet 5
• 13073_2015_207_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Bmc Medical Genomics

Kluska, Anna A; Balabas, Aneta A; Paziewska, Agnieszka A; Kulecka, Maria M; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2015-05-07

Variant appearance in text: rs28897727

PubMed Link: 25948282

Variant Present in the following documents:

• 12920_2015_92_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Arab gene geography: From population diversities to personalized medical genomics.

Global Cardiology Science & Practice

Tadmouri, Ghazi O GO; Sastry, Konduru S KS; Chouchane, Lotfi L

Publication Date: 2014

Variant appearance in text: BRCA2: Asp1420Tyr

PubMed Link: 25780794

Variant Present in the following documents:

• Main text
• gcsp-2014-054.pdf

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: BRCA2: 4258G>T; D1420Y

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: BRCA2: D1420Y

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Long-range PCR in next-generation sequencing: comparison of six enzymes and evaluation on the MiSeq sequencer.

Scientific Reports

Jia, Haiying H; Guo, Yunfei Y; Zhao, Weiwei W; Wang, Kai K

Publication Date: 2014-07-18

Variant appearance in text: BRCA2: D1420Y

PubMed Link: 25034901

Variant Present in the following documents:

• srep05737-s1.xls, sheet 2

View BVdb publication page

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