Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: BRCA1: 2751del; Lys918fs; rs886040068

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: BRCA1: 2751del

PubMed Link: 36753473

Variant Present in the following documents:

• pone.0278010.s002.xlsx, sheet 1

View BVdb publication page

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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: 2751del

PubMed Link: 36385461

Variant Present in the following documents:

• Main text
• IJC-152-1159.pdf
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s011.xlsx, sheet 1
• IJC-152-1159-s011.xlsx, sheet 3
• IJC-152-1159-s010.xlsx, sheet 4
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s010.xlsx, sheet 1

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DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine

Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N

Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 2751delC

PubMed Link: 35209950

Variant Present in the following documents:

• 13073_2022_1027_MOESM22_ESM.xls, sheet 1

View BVdb publication page

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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: 2751delC; Lys918Serfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Genomic Profiling Comparison of Germline BRCA and Non-BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non-BRCA Carriers in Patients With Triple-Negative Breast Cancer.

Frontiers In Oncology

Huang, Xin X; Shao, Di D; Wu, Huanwen H; Zhu, Changbin C; Guo, Dan D; Zhou, Yidong Y; Chen, Chang C; Lin, Yan Y; Lu, Tao T; Zhao, Bin B; Wang, Changjun C; Sun, Qiang Q

Publication Date: 2020

Variant appearance in text: BRCA1: 2751delC; K918Sfs

PubMed Link: 33194720

Variant Present in the following documents:

• Main text
• fonc-10-583314.pdf

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Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer.

Molecular Genetics & Genomic Medicine

Wang, Xiaozhen X; Liu, Haimeng H; Maimaitiaili, Amina A; Zhao, Gang G; Li, Sijie S; Lv, Zheng Z; Wu, Di D; Shi, Aiping A; Guan, Xin X; Jia, Hongyao H; Li, Menghan M; Song, Dong D; Kang, Lihua L; Han, Bing B; Fu, Tong T; Yang, Ming M; Zhu, Zhu Z; Du, Ye Y; Song, Yanqiu Y; Hong, Jinghui J; Fan, Zhimin Z

Publication Date: 2019-06

Variant appearance in text: BRCA1: 2751delC; Lys918Serfs

PubMed Link: 30968603

Variant Present in the following documents:

• Main text
• MGG3-7-e677.pdf

View BVdb publication page

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