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: BRCA1: 65T>G; Leu22*

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s002.xlsx, sheet 1

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BRCA mutation rate and characteristics of prostate tumor in breast and ovarian cancer families: analysis of 6,591 Italian pedigrees.

Cancer Biology & Medicine

Cortesi, Laura L; Domati, Federica F; Guida, Annalisa A; Marchi, Isabella I; Toss, Angela A; Barbieri, Elena E; Marcheselli, Luigi L; Venturelli, Marta M; Piana, Simonetta S; Cirilli, Claudia C; Federico, Massimo M

Publication Date: 2021-03-12

Variant appearance in text: BRCA1: 65T>G

PubMed Link: 33710808

Variant Present in the following documents:

• cbm-18-470.pdf

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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: BRCA1: 65T>G; Leu22X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 65T>G; L22*

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

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A new bioinformatics tool to help assess the significance of BRCA1 variants.

Human Genomics

Cusin, Isabelle I; Teixeira, Daniel D; Zahn-Zabal, Monique M; Rech de Laval, Valentine V; Gleizes, Anne A; Viassolo, Valeria V; Chappuis, Pierre O PO; Hutter, Pierre P; Bairoch, Amos A; Gaudet, Pascale P

Publication Date: 2018-07-11

Variant appearance in text: BRCA1: Leu22Ter

PubMed Link: 29996917

Variant Present in the following documents:

• Main text
• 40246_2018_Article_168.pdf

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