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: 3418_3419insTGACTACT

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: 3418_3419insTGACTACT; Ser1140Metfs*18

PubMed Link: 36385461

Variant Present in the following documents:

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

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Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.

Molecular Genetics & Genomic Medicine

Deng, Hongyu H; Chen, Ming M; Guo, Xinwu X; Heng, Jianfu J; Xu, Xunxun X; Peng, Limin L; Jiang, Hui H; Li, Guoli G; Day, Julia X JX; Li, Jinliang J; Shan, Dongyong D; Li, Yinghua Y; Zhou, Yanjie Y; Liu, Bin B; Dai, Lizhong L; Wang, Xiaochun X; Wang, Jun J

Publication Date: 2019-06

Variant appearance in text: BRCA1: 3418_3419insTGACTACT; S1140fs

PubMed Link: 30972954

Variant Present in the following documents:

• Main text
• MGG3-7-e672-s001.pdf

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