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: 1111C>T; H371Y

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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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: CHEK2: 1111C>T; His371Tyr

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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: 1111C>T; H371Y; rs531398630

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

Frontiers In Oncology

He, Ping P; Liu, Jie J; Xu, Qingyuan Q; Ma, Huaijun H; Niu, Beifang B; Huang, Gang G; Wu, Wei W

Publication Date: 2023

Variant appearance in text: CHEK2: 1111C>T; H371Y; rs531398630

PubMed Link: 36910641

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 8

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: CHEK2: H371Y

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Genes

Paduano, Francesco F; Colao, Emma E; Fabiani, Fernanda F; Rocca, Valentina V; Dinatolo, Francesca F; Dattola, Adele A; D'Antona, Lucia L; Amato, Rosario R; Trapasso, Francesco F; Baudi, Francesco F; Perrotti, Nicola N; Iuliano, Rodolfo R

Publication Date: 2022-07-21

Variant appearance in text: CHEK2: H371Y

PubMed Link: 35886069

Variant Present in the following documents:

• genes-13-01286.pdf

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: rs531398630

PubMed Link: 35846205

Variant Present in the following documents:

• JHA2-3-184-s002.xlsx, sheet 1

View BVdb publication page

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A Germline Mutation in ATR Is Associated With Lung Adenocarcinoma in Asian Patients.

Frontiers In Oncology

Bao, Guangyao G; Guan, Xiaojiao X; Liang, Jie J; Yao, Yao Y; Xiang, Yifan Y; Li, Tian T; Zhong, Xinwen X

Publication Date: 2022

Variant appearance in text: CHEK2: H371Y

PubMed Link: 35712480

Variant Present in the following documents:

• Main text
• fonc-12-855305.pdf

View BVdb publication page

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Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Genome Medicine

Dorling, Leila L; Carvalho, Sara S; Allen, Jamie J; Parsons, Michael T MT; Fortuno, Cristina C; González-Neira, Anna A; Heijl, Stephan M SM; Adank, Muriel A MA; Ahearn, Thomas U TU; Andrulis, Irene L IL; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bremer, Michael M; Briceno, Ignacio I; Camp, Nicola J NJ; Campbell, Archie A; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; , ; Collée, J Margriet JM; Czene, Kamila K; Dennis, Joe J; Dörk, Thilo T; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gabrielson, Marike M; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Gündert, Melanie M; Hadjisavvas, Andreas A; Hahnen, Eric E; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Hartman, Mikael M; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hoppe, Reiner R; Howell, Anthony A; , ; , ; Jakubowska, Anna A; Jung, Audrey A; Khusnutdinova, Elza E; Kim, Sung-Won SW; Ko, Yon-Dschun YD; Kristensen, Vessela N VN; Lakeman, Inge M M IMM; Li, Jingmei J; Lindblom, Annika A; Loizidou, Maria A MA; Lophatananon, Artitaya A; Lubiński, Jan J; Luccarini, Craig C; Madsen, Michael J MJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Nevanlinna, Heli H; Newman, William G WG; Oosterwijk, Jan C JC; Park, Sue K SK; Peterlongo, Paolo P; Radice, Paolo P; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Shah, Mitul M; Sim, Xueling X; Southey, Melissa C MC; Surowy, Harald H; Suvanto, Maija M; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; Waltes, Regina R; Wang, Qin Q; Yang, Xiaohong R XR; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; Benitez, Javier J; Vroling, Bas B; Dunning, Alison M AM; Teo, Soo Hwang SH; Kvist, Anders A; de la Hoya, Miguel M; Devilee, Peter P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MPG; Easton, Douglas F DF

Publication Date: 2022-05-18

Variant appearance in text: CHEK2: 1111C>T; His371Tyr

PubMed Link: 35585550

Variant Present in the following documents:

• 13073_2022_1052_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.

Frontiers In Endocrinology

Sánchez-Ares, María M; Cameselle-García, Soledad S; Abdulkader-Nallib, Ihab I; Rodríguez-Carnero, Gemma G; Beiras-Sarasquete, Carolina C; Puñal-Rodríguez, José Antonio JA; Cameselle-Teijeiro, José Manuel JM

Publication Date: 2022

Variant appearance in text: CHEK2: His371Tyr

PubMed Link: 35295987

Variant Present in the following documents:

• Main text
• fendo-13-829103.pdf

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: 1111C>T; H371Y; rs531398630

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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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: CHEK2: 1111C>T

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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Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer.

Npj Breast Cancer

Ji, Jung Hwan JH; Bae, Soong June SJ; Kim, Kyungsoo K; Chu, Chihhao C; Lee, Kyung-A KA; Kim, Yoonjung Y; Kim, Jee Hung JH; Jeong, Joon J; Ahn, Sung Gwe SG

Publication Date: 2022-02-16

Variant appearance in text: CHEK2: 1111C>T; His371Tyr

PubMed Link: 35173185

Variant Present in the following documents:

• 41523_2022_384_MOESM1_ESM.pdf

View BVdb publication page

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Next-Generation Sequencing Reveals a Very Low Prevalence of Deleterious Mutations of Homologous Recombination Repair Genes and Homologous Recombination Deficiency in Ovarian Clear Cell Carcinoma.

Frontiers In Oncology

Liu, Hangqi H; Zhang, Zhiwen Z; Chen, Longyun L; Pang, Junyi J; Wu, Huanwen H; Liang, Zhiyong Z

Publication Date: 2021

Variant appearance in text: CHEK2: 1111C>T; His371Tyr

PubMed Link: 35096598

Variant Present in the following documents:

• Table_2.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: CHEK2: 1111C>T; H371Y

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.

Frontiers In Oncology

Shen, Lu L; Zhang, Shizhen S; Wang, Kaiyue K; Wang, Xiaochen X

Publication Date: 2021

Variant appearance in text: CHEK2: 1111C>T; H371Y

PubMed Link: 34926254

Variant Present in the following documents:

• Main text
• fonc-11-740227.pdf

View BVdb publication page

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Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.

Cancer Research

Boonen, Rick A C M RACM; Wiegant, Wouter W WW; Celosse, Nandi N; Vroling, Bas B; Heijl, Stephan S; Kote-Jarai, Zsofia Z; Mijuskovic, Martina M; Cristea, Simona S; Solleveld-Westerink, Nienke N; van Wezel, Tom T; Beerenwinkel, Niko N; Eeles, Rosalind R; Devilee, Peter P; Vreeswijk, Maaike P G MPG; Marra, Giancarlo G; van Attikum, Haico H

Publication Date: 2022-02-15

Variant appearance in text: CHEK2: 1111C>T; H371Y

PubMed Link: 34903604

Variant Present in the following documents:

• Main text
• 615.pdf
• can-21-1845_supplementary_table_s3_supps3.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: CHEK2: H371Y

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients.

Gastroenterology Report

Zhang, Yin-Jie YJ; Yang, Yang Y; Wei, Qing Q; Xu, Ting T; Zhang, Xiao-Tian XT; Gao, Jing J; Tan, Si-Yi SY; Liu, Bao-Rui BR; Zhang, Jing-Dong JD; Chen, Xiao-Bing XB; Wang, Zhao-Jie ZJ; Qiu, Meng M; Wang, Xin X; Shen, Lin L; Wang, Xi-Cheng XC

Publication Date: 2021-08

Variant appearance in text: CHEK2: 1111C>T

PubMed Link: 34567566

Variant Present in the following documents:

• Main text
• goab020.pdf

View BVdb publication page

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Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Scientific Reports

Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O

Publication Date: 2021-07-20

Variant appearance in text: CHEK2: 1111C>T; His371Tyr

PubMed Link: 34285288

Variant Present in the following documents:

• 41598_2021_94292_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Incidental findings from cancer next generation sequencing panels.

Npj Genomic Medicine

Maani, Nika N; Panabaker, Karen K; McCuaig, Jeanna M JM; Buckley, Kathleen K; Semotiuk, Kara K; Farncombe, Kirsten M KM; Ainsworth, Peter P; Panchal, Seema S; Sadikovic, Bekim B; Armel, Susan Randall SR; Lin, Hanxin H; Kim, Raymond H RH

Publication Date: 2021-07-19

Variant appearance in text: CHEK2: 1111C>T; His371Tyr

PubMed Link: 34282142

Variant Present in the following documents:

• Main text
• 41525_2021_Article_224.pdf

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: 1111C>T; His371Tyr; rs531398630

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: CHEK2: 1111C>T; H371Y; rs531398630

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Experimental Hematology & Oncology

Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J

Publication Date: 2021-02-05

Variant appearance in text: CHEK2: 1111C>T; H371Y

PubMed Link: 33546774

Variant Present in the following documents:

• 40164_2021_200_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.

Endocrine Pathology

Cameselle-Teijeiro, José Manuel JM; Mete, Ozgur O; Asa, Sylvia L SL; LiVolsi, Virginia V

Publication Date: 2021-03

Variant appearance in text: CHEK2: H371Y

PubMed Link: 33495912

Variant Present in the following documents:

• Main text
• 12022_2020_Article_9661.pdf

View BVdb publication page

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CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate.

Cells

Stolarova, Lenka L; Kleiblova, Petra P; Janatova, Marketa M; Soukupova, Jana J; Zemankova, Petra P; Macurek, Libor L; Kleibl, Zdenek Z

Publication Date: 2020-12-12

Variant appearance in text: CHEK2: H371Y

PubMed Link: 33322746

Variant Present in the following documents:

• Main text
• cells-09-02675.pdf

View BVdb publication page

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Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.

Annals Of Translational Medicine

Lang, Guan-Tian GT; Shi, Jin-Xiu JX; Huang, Liang L; Cao, A-Yong AY; Zhang, Chen-Hui CH; Song, Chuan-Gui CG; Zhuang, Zhi-Gang ZG; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM

Publication Date: 2020-11

Variant appearance in text: CHEK2: 1111C>T; H371Y; rs531398630

PubMed Link: 33313162

Variant Present in the following documents:

• Main text
• atm-08-21-1417.pdf

View BVdb publication page

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Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.

Journal Of The National Cancer Institute

Yadav, Siddhartha S; LaDuca, Holly H; Polley, Eric C EC; Hu, Chunling C; Niguidula, Nancy N; Shimelis, Hermela H; Lilyquist, Jenna J; Na, Jie J; Lee, Kun Y KY; Gutierrez, Stephanie S; Yussuf, Amal A; Hart, Steven N SN; Davis, Brigette Tippin BT; Chao, Elizabeth C EC; Pesaran, Tina T; Goldgar, David E DE; Dolinsky, Jill S JS; Couch, Fergus J FJ

Publication Date: 2021-10-01

Variant appearance in text: CHEK2: 1111C>T

PubMed Link: 33146377

Variant Present in the following documents:

• djaa167_supplementary_data.pdf

View BVdb publication page

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Comparison of Patient Susceptibility Genes Across Breast Cancer: Implications for Prognosis and Therapeutic Outcomes.

Pharmacogenomics And Personalized Medicine

Peleg Hasson, Shira S; Menes, Tehillah T; Sonnenblick, Amir A

Publication Date: 2020

Variant appearance in text: CHEK2: H371Y

PubMed Link: 32801835

Variant Present in the following documents:

• Main text
• pgpm-13-227.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CHEK2: 1111C>T; rs531398630

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: CHEK2: H371Y

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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: H371Y

PubMed Link: 32091409

Variant Present in the following documents:

• Main text
• aging-12-102783.pdf
• aging-12-102783-s001..xlsx, sheet 1

View BVdb publication page

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Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Cancer Science

Shao, Di D; Cheng, Shaomin S; Guo, Fengming F; Zhu, Changbin C; Yuan, Yuying Y; Hu, Kunling K; Wang, Zhe Z; Meng, Xuan X; Jin, Xin X; Xiong, Yun Y; Chai, Xianghua X; Li, Hong H; Zhang, Yu Y; Zhang, Hongyun H; Liu, Jihong J; Ye, Mingzhi M

Publication Date: 2020-02

Variant appearance in text: CHEK2: H371Y

PubMed Link: 31742824

Variant Present in the following documents:

• Main text
• CAS-111-647.pdf
• CAS-111-647-s001.xlsx, sheet 1

View BVdb publication page

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Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.

Plos One

Badgujar, Nutan V NV; Tarapara, Bhoomi V BV; Shah, Franky D FD

Publication Date: 2019

Variant appearance in text: CHK2: His371Tyr

PubMed Link: 31398194

Variant Present in the following documents:

• Main text

View BVdb publication page

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High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.

Scientific Reports

Lee, Seung Eun SE; Lee, Hye Seung HS; Kim, Kyoung-Yeon KY; Park, Jung-Hoon JH; Roh, Hanseong H; Park, Ha Young HY; Kim, Wan-Seop WS

Publication Date: 2019-07-29

Variant appearance in text: CHEK2: H371Y

PubMed Link: 31358837

Variant Present in the following documents:

• Main text
• 41598_2019_Article_47439.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: CHEK2: 1111C>T; His371Tyr

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s005.xlsx, sheet 1
• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Recent advances of therapeutic targets based on the molecular signature in breast cancer: genetic mutations and implications for current treatment paradigms.

Journal Of Hematology & Oncology

Lima, Zeinab Safarpour ZS; Ghadamzadeh, Mostafa M; Arashloo, Farzad Tahmasebi FT; Amjad, Ghazaleh G; Ebadi, Mohammad Reza MR; Younesi, Ladan L

Publication Date: 2019-04-11

Variant appearance in text: CHEK2: H371Y

PubMed Link: 30975222

Variant Present in the following documents:

• Main text
• 13045_2019_Article_725.pdf

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: CHEK2: 1111C>T; His371Tyr

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

View BVdb publication page

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Rapid progression of disease in two cases of undifferentiated endometrial carcinoma.

Gynecologic Oncology Reports

Pfaendler, Krista S KS; Randall, Leslie M LM

Publication Date: 2019-02

Variant appearance in text: CHEK2: 1111C>T

PubMed Link: 30723762

Variant Present in the following documents:

• main.pdf

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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: 1111C>T; His371Tyr; rs531398630

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

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Germline mutation of CHEK2 in neurofibromatosis 1 and 2: Two case reports.

Medicine

Li, Qiang Q; Zhao, Feilong F; Ju, Yan Y

Publication Date: 2018-06

Variant appearance in text: CHEK2: H371Y

PubMed Link: 29879026

Variant Present in the following documents:

• Main text

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Study on the Mechanism of Cell Cycle Checkpoint Kinase 2 (CHEK2) Gene Dysfunction in Chemotherapeutic Drug Resistance of Triple Negative Breast Cancer Cells.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Luo, Li L; Gao, Wei W; Wang, Jinghui J; Wang, Dingxue D; Peng, Xiaobo X; Jia, Zhaoyang Z; Jiang, Ye Y; Li, Gongzhuo G; Tang, Dongxin D; Wang, Yajie Y

Publication Date: 2018-05-15

Variant appearance in text: CHEK2: H371Y

PubMed Link: 29761796

Variant Present in the following documents:

• medscimonit-24-3176.pdf

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Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.

Journal Of The National Cancer Institute

Lowery, Maeve A MA; Wong, Winston W; Jordan, Emmet J EJ; Lee, Jonathan W JW; Kemel, Yelena Y; Vijai, Joseph J; Mandelker, Diana D; Zehir, Ahmet A; Capanu, Marinela M; Salo-Mullen, Erin E; Arnold, Angela G AG; Yu, Kenneth H KH; Varghese, Anna M AM; Kelsen, David P DP; Brenner, Robin R; Kaufmann, Erica E; Ravichandran, Vignesh V; Mukherjee, Semanti S; Berger, Michael F MF; Hyman, David M DM; Klimstra, David S DS; Abou-Alfa, Ghassan K GK; Tjan, Catherine C; Covington, Christina C; Maynard, Hannah H; Allen, Peter J PJ; Askan, Gokce G; Leach, Steven D SD; Iacobuzio-Donahue, Christine A CA; Robson, Mark E ME; Offit, Kenneth K; Stadler, Zsofia K ZK; O'Reilly, Eileen M EM

Publication Date: 2018-10-01

Variant appearance in text: CHEK2: 1111C>T; His371Tyr

PubMed Link: 29506128

Variant Present in the following documents:

• Main text

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Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer.

Bmc Cancer

Park, Ji Soo JS; Lee, Seung-Tae ST; Nam, Eun Ji EJ; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Park, Hyung Seok HS

Publication Date: 2018-01-16

Variant appearance in text: CHEK2: His371Tyr; rs531398630

PubMed Link: 29338689

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3940.pdf

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