Publications:

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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: BRCA2: 5495del

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: BRCA2: 5495del; Ser1832Leufs*8

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s002.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: BRCA2: 5495del; Ser1832Leufs*8

PubMed Link: 33850850

Variant Present in the following documents:

• Main text
• atm-09-06-453.pdf

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Fertility preservation in BRCA mutation carriers-efficacy and safety issues: a review.

Reproductive Biology And Endocrinology : Rb&E

Zhang, Xiaofu X; Niu, Jingxin J; Che, Tuanjie T; Zhu, Yibei Y; Zhang, Hongtao H; Qu, Jing J

Publication Date: 2020-02-18

Variant appearance in text: BRCA2: 5495delC

PubMed Link: 32070378

Variant Present in the following documents:

• Main text
• 12958_2019_Article_561.pdf

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Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.

Bmc Cancer

Cao, Wen-Ming WM; Zheng, Ya-Bing YB; Gao, Yun Y; Ding, Xiao-Wen XW; Sun, Yan Y; Huang, Yuan Y; Lou, Cai-Jin CJ; Pan, Zhi-Wen ZW; Peng, Guang G; Wang, Xiao-Jia XJ

Publication Date: 2019-06-07

Variant appearance in text: BRCA2: 5495delC; Ser1832Leufs

PubMed Link: 31174498

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5765.pdf

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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: BRCA2: 5495del; Ser1832fs

PubMed Link: 29805665

Variant Present in the following documents:

• Main text

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Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population.

Oncology Letters

Fang, Min M; Zhu, Li L; Li, Hengyu H; Li, Xizhou X; Wu, Yanmei Y; Wu, Kainan K; Lin, Jian J; Sheng, Yuan Y; Yu, Yue Y

Publication Date: 2018-03

Variant appearance in text: BRCA2: 5495delC

PubMed Link: 29435039

Variant Present in the following documents:

• Main text
• ol-15-03-3068.pdf

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Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.

Bmc Cancer

Cao, Wen-Ming WM; Gao, Yun Y; Yang, Hong-Jian HJ; Xie, Shang-Nao SN; Ding, Xiao-Wen XW; Pan, Zhi-Wen ZW; Ye, Wei-Wu WW; Wang, Xiao-Jia XJ

Publication Date: 2016-02-06

Variant appearance in text: BRCA2: 5495delC; S1832LfsX8

PubMed Link: 26852015

Variant Present in the following documents:

• Main text
• 12885_2016_Article_2107.pdf

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