Publications:

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Somatic and germline aberrations in homologous recombination repair genes in Chinese prostate cancer patients.

Frontiers In Oncology

Liu, Yixiao Y; Jin, Bo B; Shen, Cheng C; Gao, Xianshu X; Qi, Xin X; Ma, Mingwei M; Li, Hongzhen H; Hao, Han H; Tang, Qi Q; Yang, Kaiwei K; Mi, Yue Y; Guan, Jie J; Feng, Xuero X; He, Zhisong Z; Li, Haixia H; Yu, Wei W

Publication Date: 2023

Variant appearance in text: CHEK2: 755G>A; S252N

PubMed Link: 37064136

Variant Present in the following documents:

• Table_1.xlsx, sheet 1
• Table_1.xlsx, sheet 2

View BVdb publication page

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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: CHEK2: 755G>A; Ser252Asn; rs587781379

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)

Fujitani, Hiroo H; Eguchi, Hidetaka H; Kochi, Yuta Y; Arai, Tomio T; Muramatsu, Masaaki M; Okazaki, Yasushi Y

Publication Date: 2023-03-02

Variant appearance in text: CHEK2: 755G>A; Ser252Asn; rs587781379

PubMed Link: 36896836

Variant Present in the following documents:

• ejcp-32-286-s003.pdf

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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: rs587781379

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Ejhaem

Cheng, Chi-Keung CK; Lai, Jennifer W Y JWY; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Wong, Raymond S M RSM; Chan, Natalie P H NPH; Cheung, Joyce S JS; Luo, Xi X; Pitts, Herbert-Augustus HA; Ng, Margaret H L MHL

Publication Date: 2022-02

Variant appearance in text: rs587781379

PubMed Link: 35846205

Variant Present in the following documents:

• JHA2-3-184-s002.xlsx, sheet 1

View BVdb publication page

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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: CHEK2: 755G>A; S252N

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: CHEK2: 755G>A; S252N; rs587781379

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Frontiers In Oncology

Yao, Qianlan Q; Liu, Yanhui Y; Zhang, Lihua L; Dong, Lin L; Bao, Longlong L; Bai, Qianming Q; Cui, Qian Q; Xu, Jie J; Li, Min M; Liu, Jing J; Chuai, Shannon S; Ying, Jianming J; Zhang, Zhihong Z; Zhou, Xiaoyan X

Publication Date: 2022

Variant appearance in text: CHEK2: 755G>A; Ser252Asn; rs587781379

PubMed Link: 35186721

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 3

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: CHEK2: 755G>A; S252N

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: CHEK2: 755G>A; Ser252Asn; rs587781379

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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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: CHEK2: Ser252Asn

PubMed Link: 32984025

Variant Present in the following documents:

• Main text
• fonc-10-01603.pdf

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: CHEK2: 755G>A; Ser252Asn; rs587781379

PubMed Link: 32091409

Variant Present in the following documents:

• aging-12-102783-s001..xlsx, sheet 1

View BVdb publication page

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Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.

Molecular Genetics & Genomic Medicine

Chen, Zhanhong Z; Sun, Tian T; Yang, Ziyan Z; Zheng, Yabing Y; Yu, Ruoying R; Wu, Xue X; Yan, Junrong J; Shao, Yang W YW; Shao, Xiying X; Cao, Wenming W; Wang, Xiaojia X

Publication Date: 2020-02

Variant appearance in text: CHEK2: 755G>A; S252N

PubMed Link: 31867841

Variant Present in the following documents:

• MGG3-8-e1079-s004.xlsx, sheet 1

View BVdb publication page

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Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.

Frontiers In Genetics

Deng, Jiaying J; Weng, Xiaoling X; Ye, Junyi J; Zhou, Daizhan D; Liu, Yun Y; Zhao, Kuaile K

Publication Date: 2019

Variant appearance in text: CHEK2: Ser252Asn

PubMed Link: 30833958

Variant Present in the following documents:

• Main text
• fgene-10-00047.pdf

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: CHEK2: 755G>A; Ser252Asn; rs587781379

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CHEK2: 755G>A; Ser252Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics

Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S

Publication Date: 2016-12

Variant appearance in text: CHEK2: 755G>A; S252N

PubMed Link: 27997549

Variant Present in the following documents:

• pgen.1006501.s002.xlsx, sheet 1

View BVdb publication page

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