Publications:

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: Arg2625del

PubMed Link: 36385461

Variant Present in the following documents:

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

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Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.

Cancers

Gelli, Elisa E; Colombo, Mara M; Pinto, Anna Maria AM; De Vecchi, Giovanna G; Foglia, Claudia C; Amitrano, Sara S; Morbidoni, Valeria V; Imperatore, Valentina V; Manoukian, Siranoush S; Baldassarri, Margherita M; Lo Rizzo, Caterina C; Catania, Lorenza L; Frullanti, Elisa E; Tagliafico, Enrico E; Cortesi, Laura L; Spaggiari, Federica F; Mencarelli, Maria Antonietta MA; Trevisson, Eva E; Radice, Paolo P; Renieri, Alessandra A; Ariani, Francesca F

Publication Date: 2019-03-01

Variant appearance in text: BRCA2: Arg2625del

PubMed Link: 30832263

Variant Present in the following documents:

• Main text
• cancers-11-00295.pdf

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Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

Plos Genetics

Fraile-Bethencourt, Eugenia E; Díez-Gómez, Beatriz B; Velásquez-Zapata, Valeria V; Acedo, Alberto A; Sanz, David J DJ; Velasco, Eladio A EA

Publication Date: 2017-03

Variant appearance in text: BRCA2: R2625del

PubMed Link: 28339459

Variant Present in the following documents:

• Main text
• pgen.1006691.pdf

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