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: BRCA2: S791L

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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Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine

Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021-11

Variant appearance in text: BRCA2: 2372C>T; Ser791Leu

PubMed Link: 34841677

Variant Present in the following documents:

• CTM2-11-e567-s004.xlsx, sheet 5

View BVdb publication page

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Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology

Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021

Variant appearance in text: BRCA2: 2372C>T; S791L

PubMed Link: 34712610

Variant Present in the following documents:

• DataSheet_1.xls, sheet 5

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: BRCA2: 2372C>T; S791L

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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: 2372C>T; Ser791Leu

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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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: S791L

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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