Publications:

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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: 231T>G; rs114446594

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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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: BRCA2: 231T>G

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.

Frontiers In Genetics

Lin, Jin-Huan JH; Wu, Hao H; Zou, Wen-Bin WB; Masson, Emmanuelle E; Fichou, Yann Y; Le Gac, Gerald G; Cooper, David N DN; Férec, Claude C; Liao, Zhuan Z; Chen, Jian-Min JM

Publication Date: 2021

Variant appearance in text: BRCA2: 231T>G

PubMed Link: 34422003

Variant Present in the following documents:

• Main text
• fgene-12-701652.pdf

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: 231T>G; Thr77=

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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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: T77T

PubMed Link: 32866190

Variant Present in the following documents:

• pone.0238295.s002.xlsx, sheet 1

View BVdb publication page

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Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

Cancer Research

Tubeuf, Hélène H; Caputo, Sandrine M SM; Sullivan, Teresa T; Rondeaux, Julie J; Krieger, Sophie S; Caux-Moncoutier, Virginie V; Hauchard, Julie J; Castelain, Gaia G; Fiévet, Alice A; Meulemans, Laëtitia L; Révillion, Françoise F; Léoné, Mélanie M; Boutry-Kryza, Nadia N; Delnatte, Capucine C; Guillaud-Bataille, Marine M; Cleveland, Linda L; Reid, Susan S; Southon, Eileen E; Soukarieh, Omar O; Drouet, Aurélie A; Di Giacomo, Daniela D; Vezain, Myriam M; Bonnet-Dorion, Françoise F; Bourdon, Violaine V; Larbre, Hélène H; Muller, Danièle D; Pujol, Pascal P; Vaz, Fátima F; Audebert-Bellanger, Séverine S; Colas, Chrystelle C; Venat-Bouvet, Laurence L; Solano, Angela R AR; Stoppa-Lyonnet, Dominique D; Houdayer, Claude C; Frebourg, Thierry T; Gaildrat, Pascaline P; Sharan, Shyam K SK; Martins, Alexandra A

Publication Date: 2020-09-01

Variant appearance in text: BRCA2: 231T>G

PubMed Link: 32641407

Variant Present in the following documents:

• Main text

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: 231T>G; Thr77Thr; rs114446594

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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Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.

Prostate Cancer And Prostatic Diseases

Petrovics, Gyorgy G; Price, Douglas K DK; Lou, Hong H; Chen, Yongmei Y; Garland, Lisa L; Bass, Sara S; Jones, Kristine K; Kohaar, Indu I; Ali, Amina A; Ravindranath, Lakshmi L; Young, Denise D; Cullen, Jennifer J; Dorsey, Tiffany H TH; Sesterhenn, Isabell A IA; Brassell, Stephen A SA; Rosner, Inger L IL; Ross, Doug D; Dahut, William W; Ambs, Stefan S; Figg, William Douglas WD; Srivastava, Shiv S; Dean, Michael M

Publication Date: 2019-09

Variant appearance in text: BRCA2: Thr77Thr; rs114446594

PubMed Link: 30542053

Variant Present in the following documents:

• 41391_2018_114_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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BRCA1/BRCA2 Mutations Shaped by Ancient Consanguinity Practice in Southern Mediterranean Populations

Asian Pacific Journal Of Cancer Prevention : Apjcp

Belaiba, Fadoua F; Medimegh, Imene I; Bidet, Yannick Y; Boussetta, Sami S; Baroudi, Olfa O; Mezlini, Amel A; Bignon, Yves Jean YJ; Benammar El gaaied, Amel A

Publication Date: 2018-10-26

Variant appearance in text: BRCA2: T77T

PubMed Link: 30362333

Variant Present in the following documents:

• Main text
• APJCP-19-2963.pdf

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: 231T>G

PubMed Link: 28814288

Variant Present in the following documents:

• 12881_2017_Article_448.pdf

View BVdb publication page

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Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

International Journal Of Molecular Sciences

Grodecká, Lucie L; Buratti, Emanuele E; Freiberger, Tomáš T

Publication Date: 2017-07-31

Variant appearance in text: BRCA2: 231T>G

PubMed Link: 28758972

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: 231T>G; Thr77=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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

Human Mutation

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

Publication Date: 2016-07

Variant appearance in text: BRCA2: 231T>G; T77T

PubMed Link: 26913838

Variant Present in the following documents:

• HUMU-37-627-s002.xlsx, sheet 1
• HUMU-37-627-s001.xlsx, sheet 1

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: BRCA2: 231T>G; rs114446594

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

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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: 231T>G

PubMed Link: 22684231

Variant Present in the following documents:

• DM32-06-234136.pdf

View BVdb publication page

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Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

European Journal Of Human Genetics : Ejhg

Théry, Jean Christophe JC; Krieger, Sophie S; Gaildrat, Pascaline P; Révillion, Françoise F; Buisine, Marie-Pierre MP; Killian, Audrey A; Duponchel, Christiane C; Rousselin, Antoine A; Vaur, Dominique D; Peyrat, Jean-Philippe JP; Berthet, Pascaline P; Frébourg, Thierry T; Martins, Alexandra A; Hardouin, Agnès A; Tosi, Mario M

Publication Date: 2011-10

Variant appearance in text: BRCA2: 231T>G; Thr77Thr

PubMed Link: 21673748

Variant Present in the following documents:

• Main text

View BVdb publication page

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BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.

Disease Markers

Cherbal, Farid F; Bakour, Rabah R; Adane, Saida S; Boualga, Kada K; Benais-Pont, Gaelle G; Maillet, Philippe P

Publication Date: 2010

Variant appearance in text: BRCA2: 231T>G

PubMed Link: 20683152

Variant Present in the following documents:

• DM28-06-585278.pdf

View BVdb publication page

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