Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: POLE: V1514A; rs116742454

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics

Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X

Publication Date: 2022

Variant appearance in text: POLE: 4541T>C; Val1514Ala; rs116742454

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 3
• Table1.xls, sheet 2
• Table1.xls, sheet 4
• Table1.xls, sheet 1

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: POLE: V1514A

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology

Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M

Publication Date: 2022-10

Variant appearance in text: POLE: 4541T>C; V1514A

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.xlsx, sheet 1

View BVdb publication page

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Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

Orphanet Journal Of Rare Diseases

Zhang, Wei W; Li, Yanmeng Y; Xu, Anjian A; Ouyang, Qin Q; Wu, Liyan L; Zhou, Donghu D; Wu, Lina L; Zhang, Bei B; Zhao, Xinyan X; Wang, Yu Y; Wang, Xiaoming X; Duan, Weijia W; Wang, Qianyi Q; You, Hong H; Huang, Jian J; Ou, Xiaojuan X; Jia, Jidong J; ,

Publication Date: 2022-06-06

Variant appearance in text: POLE: 4541T>C; V1514A; rs116742454

PubMed Link: 35668470

Variant Present in the following documents:

• 13023_2022_2349_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.

Bmc Cancer

Wen, Hao H; Feng, Zheng Z; Ma, Yutong Y; Liu, Rui R; Ou, Qiuxiang Q; Guo, Qinhao Q; Shen, Yi Y; Wu, Xue X; Shao, Yang Y; Bao, Hua H; Wu, Xiaohua X

Publication Date: 2022-05-16

Variant appearance in text: POLE: 4541T>C; V1514A

PubMed Link: 35578198

Variant Present in the following documents:

• 12885_2022_9602_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: POLE: 4541T>C; V1514A

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, 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: POLE: 4541T>C; V1514A; rs116742454

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: POLE: 4541T>C; V1514A

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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An aggressive systemic mastocytosis preceded by ovarian dysgerminoma.

Bmc Cancer

Tsutsumi, Makiko M; Miura, Hiroki H; Inagaki, Hidehito H; Shinkai, Yasuko Y; Kato, Asuka A; Kato, Takema T; Hamada-Tsutsumi, Susumu S; Tanaka, Makito M; Kudo, Kazuko K; Yoshikawa, Tetsushi T; Kurahashi, Hiroki H

Publication Date: 2020-11-27

Variant appearance in text: POLE: 4541T>C; Val1514Ala; rs116742454

PubMed Link: 33246418

Variant Present in the following documents:

• 12885_2020_7653_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.

Frontiers In Oncology

Xu, Yun Y; Li, Cong C; Zhang, Yuqin Y; Guo, Tian'an T; Zhu, Congcong C; Xu, Ye Y; Liu, Fangqi F

Publication Date: 2020

Variant appearance in text: POLE: Val1514Ala

PubMed Link: 32984025

Variant Present in the following documents:

• Main text
• fonc-10-01603.pdf

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: POLE: 4541T>C; Val1514Ala

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging

Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N

Publication Date: 2020-02-24

Variant appearance in text: POLE: 4541T>C; Val1514Ala; rs116742454

PubMed Link: 32091409

Variant Present in the following documents:

• aging-12-102783-s001..xlsx, sheet 1

View BVdb publication page

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Interpretation of somatic POLE mutations in endometrial carcinoma.

The Journal Of Pathology

León-Castillo, Alicia A; Britton, Heidi H; McConechy, Melissa K MK; McAlpine, Jessica N JN; Nout, Remi R; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Bosse, Tjalling T; Church, David N DN; Gilks, C Blake CB

Publication Date: 2020-03

Variant appearance in text: POLE: 4541T>C; V1514A

PubMed Link: 31829442

Variant Present in the following documents:

• PATH-250-323-s002.xlsx, sheet 2

View BVdb publication page

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