Publications:

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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: BRCA1: V477I

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine

Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N

Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 1429G>A

PubMed Link: 35209950

Variant Present in the following documents:

• 13073_2022_1027_MOESM22_ESM.xls, sheet 1

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: BRCA1: V477I

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

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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: 1429G>A; Val477Ile

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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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: BRCA1: V477I

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

Nature Communications

Hernández, Gonzalo G; Ramírez, María José MJ; Minguillón, Jordi J; Quiles, Paco P; Ruiz de Garibay, Gorka G; Aza-Carmona, Miriam M; Bogliolo, Massimo M; Pujol, Roser R; Prados-Carvajal, Rosario R; Fernández, Juana J; García, Nadia N; López, Adrià A; Gutiérrez-Enríquez, Sara S; Diez, Orland O; Benítez, Javier J; Salinas, Mónica M; Teulé, Alex A; Brunet, Joan J; Radice, Paolo P; Peterlongo, Paolo P; Schindler, Detlev D; Huertas, Pablo P; Puente, Xose S XS; Lázaro, Conxi C; Pujana, Miquel Àngel MÀ; Surrallés, Jordi J

Publication Date: 2018-03-06

Variant appearance in text: BRCA1: 1429G>A

PubMed Link: 29511213

Variant Present in the following documents:

• Main text

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