Publications:

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One

Rao, Nandana D ND; Shirts, Brian H BH

Publication Date: 2023

Variant appearance in text: BRCA1: 3621del

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

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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: BRCA1: 3621del; Lys1208Asnfs*2

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s010.xlsx, sheet 4
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 1
• IJC-152-1159-s011.xlsx, sheet 1

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: BRCA1: 3621del; Lys1208Asnfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.

Oncology Letters

Wei, Hongyi H; Wang, Minghao M; Ou, Jianghua J; Jiang, Weihua W; Tian, Fuguo F; Sheng, Yuan Y; Li, Hengyu H; Xu, Hong H; Zhang, Ruishan R; Guan, Aihua A; Wang, Changqing C; Jiang, Hongchuan H; Ren, Yu Y; He, Jianjun J; Liu, Jian J; Huang, Weiwei W; Liao, Ning N; Cai, Xiangjun X; Ming, Jia J; Ling, Rui R; Xu, Yan Y; Hu, Chunyan C; Zhang, Jianguo J; Guo, Baoliang B; Ouyang, Lizhi L; Shuai, Ping P; Liu, Zhenzhen Z; Zhong, Ling L; Jing, Ruilin R; Zeng, Zhen Z; Zhang, Meng M; Zhang, Ting T; Xuan, Zhaoling Z; Tan, Xuanni X; Liang, Junbin J; Pan, Qinwen Q; Chen, Li L; Zhang, Fan F; Fan, Linjun L; Zhang, Yi Y; Yang, Xinhua X; Li, Jingbo J; Chen, Chongjian C; Jiang, Jun J

Publication Date: 2018-06

Variant appearance in text: BRCA1: 3621del

PubMed Link: 29805665

Variant Present in the following documents:

• Main text

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