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: 4228del

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: 4228del; Glu1410Lysfs*5

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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Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.

Annals Of Translational Medicine

Ji, Gang G; Yao, Qianlan Q; Bao, Longlong L; Zhang, Jing J; Bai, Qianming Q; Zhu, Xiaoli X; Tu, Xiaoyu X; Bi, Rui R; Zhou, Xiaoyan X

Publication Date: 2021-03

Variant appearance in text: BRCA1: 4228delG; Glu1410Lysfs*5

PubMed Link: 33850850

Variant Present in the following documents:

• Main text
• atm-09-06-453.pdf

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Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

Plos One

Yang, Xiaochen X; Wu, Jiong J; Lu, Jingsong J; Liu, Guangyu G; Di, Genhong G; Chen, Canming C; Hou, Yifeng Y; Sun, Menghong M; Yang, Wentao W; Xu, Xiaojing X; Zhao, Ying Y; Hu, Xin X; Li, Daqiang D; Cao, Zhigang Z; Zhou, Xiaoyan X; Huang, Xiaoyan X; Liu, Zhebin Z; Chen, Huan H; Gu, Yanzi Y; Chi, Yayun Y; Yan, Xia X; Han, Qixia Q; Shen, Zhenzhou Z; Shao, Zhimin Z; Hu, Zhen Z

Publication Date: 2015

Variant appearance in text: BRCA1: 4228delG; E1410Kfs*5

PubMed Link: 25927356

Variant Present in the following documents:

• Main text
• pone.0125571.pdf

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