Publications:

---

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: 1555C>T; Arg519Ter; rs200432447

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CHEK2: 1555C>T; Arg519Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass

Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J

Publication Date: 2023-03

Variant appearance in text: CHEK2: R519X

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

---

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: CHEK2: 1555C>T; Arg519Ter

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: CHEK2: 1555C>T; R519*

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

---

EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: CHEK2: 1555C>T; R519*

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: CHEK2: R519*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: CHEK2: 1555C>T; Arg519Ter; rs200432447

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS3.xlsx, sheet 1
• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS4.xlsx, sheet 2
• LSA-2021-01319_TableS4.xlsx, sheet 1

View BVdb publication page

---

Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science

Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K

Publication Date: 2022-08

Variant appearance in text: CHEK2: R519X

PubMed Link: 35579198

Variant Present in the following documents:

• CAS-113-2763-s003.xlsx, sheet 10

View BVdb publication page

---

Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: CHEK2: 1555C>T; R519*

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM4_ESM.xlsx, sheet 1
• 41467_2022_28840_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 1555C>T; Arg519*; rs200432447

PubMed Link: 35186721

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 3
• DataSheet_2.xlsx, sheet 2

View BVdb publication page

---

Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy.

Jnci Cancer Spectrum

Akamatsu, Shusuke S; Terada, Naoki N; Takata, Ryo R; Kinoshita, Hidefumi H; Shimatani, Kimihiro K; Momozawa, Yukihide Y; Yamamoto, Michio M; Tada, Harue H; Kawamorita, Naoki N; Narita, Shintaro S; Kato, Takuma T; Nitta, Masahiro M; Kandori, Shuya S; Koike, Yusuke Y; Inazawa, Johji J; Kimura, Takahiro T; Kimura, Hiroko H; Kojima, Takahiro T; Terachi, Toshiro T; Sugimoto, Mikio M; Habuchi, Tomonori T; Arai, Yoichi Y; Yamamoto, Shingo S; Matsuda, Tadashi T; Obara, Wataru W; Kamoto, Toshiyuki T; Inoue, Takahiro T; Nakagawa, Hidewaki H; Ogawa, Osamu O

Publication Date: 2022-02

Variant appearance in text: CHEK2: R519*

PubMed Link: 35118230

Variant Present in the following documents:

• Main text
• pkac001.pdf

View BVdb publication page

---

Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy.

Jnci Cancer Spectrum

Akamatsu, Shusuke S; Terada, Naoki N; Takata, Ryo R; Kinoshita, Hidefumi H; Shimatani, Kimihiro K; Momozawa, Yukihide Y; Yamamoto, Michio M; Tada, Harue H; Kawamorita, Naoki N; Narita, Shintaro S; Kato, Takuma T; Nitta, Masahiro M; Kandori, Shuya S; Koike, Yusuke Y; Inazawa, Johji J; Kimura, Takahiro T; Kimura, Hiroko H; Kojima, Takahiro T; Terachi, Toshiro T; Sugimoto, Mikio M; Habuchi, Tomonori T; Arai, Yoichi Y; Yamamoto, Shingo S; Matsuda, Tadashi T; Obara, Wataru W; Kamoto, Toshiyuki T; Inoue, Takahiro T; Nakagawa, Hidewaki H; Ogawa, Osamu O

Publication Date: 2022-02

Variant appearance in text: CHEK2: R519*

PubMed Link: 35118230

Variant Present in the following documents:

• Main text
• pkac001.pdf

View BVdb publication page

---

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: 1555C>T; R519X

PubMed Link: 34903604

Variant Present in the following documents:

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

View BVdb publication page

---

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: CHEK2: 1555C>T; Arg519*

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

View BVdb publication page

---

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: 1555C>T; Arg519Ter; rs200432447

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

---

Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.

Journal Of Personalized Medicine

Fonfria, Maria M; de Juan Jiménez, Inmaculada I; Tena, Isabel I; Chirivella, Isabel I; Richart-Aznar, Paula P; Segura, Angel A; Sánchez-Heras, Ana Beatriz AB; Martinez-Dueñas, Eduardo E

Publication Date: 2021-06-12

Variant appearance in text: CHEK2: 1555C>T; Arg519Ter

PubMed Link: 34204722

Variant Present in the following documents:

• Main text
• jpm-11-00548.pdf

View BVdb publication page

---

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One

Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R

Publication Date: 2021

Variant appearance in text: CHEK2: R519*

PubMed Link: 33556149

Variant Present in the following documents:

• pone.0246048.s008.xlsx, sheet 1

View BVdb publication page

---

Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Lotan, Tamara L TL; Kaur, Harsimar B HB; Salles, Daniela C DC; Murali, Sanjana S; Schaeffer, Edward M EM; Lanchbury, Jerry S JS; Isaacs, William B WB; Brown, Robert R; Richardson, Andrea L AL; Cussenot, Olivier O; Cancel-Tassin, Geraldine G; Timms, Kirsten M KM; Antonarakis, Emmanuel S ES

Publication Date: 2021-06

Variant appearance in text: CHEK2: Arg519*

PubMed Link: 33462368

Variant Present in the following documents:

• NIHMS1655161-supplement-1.pdf

View BVdb publication page

---

The mutational pattern of homologous recombination (HR)-associated genes and its relevance to the immunotherapeutic response in gastric cancer.

Cancer Biology & Medicine

Fan, Yue Y; Ying, Haifeng H; Wu, Xueying X; Chen, Huan H; Hu, Ying Y; Zhang, Henghui H; Wu, Lijia L; Yang, Ying Y; Mao, Beibei B; Zheng, Lan L

Publication Date: 2020-11-15

Variant appearance in text: CHEK2: 1555C>T; R519*

PubMed Link: 33299649

Variant Present in the following documents:

• cbm-17-1002-s001.pdf

View BVdb publication page

---

Genomic and transcriptomic alterations associated with drug vulnerabilities and prognosis in adenocarcinoma at the gastroesophageal junction.

Nature Communications

Lin, Yuan Y; Luo, Yingying Y; Sun, Yanxia Y; Guo, Wenjia W; Zhao, Xuan X; Xi, Yiyi Y; Ma, Yuling Y; Shao, Mingming M; Tan, Wen W; Gao, Ge G; Wu, Chen C; Lin, Dongxin D

Publication Date: 2020-11-30

Variant appearance in text: CHEK2: R519*

PubMed Link: 33257699

Variant Present in the following documents:

• 41467_2020_19949_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs200432447

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.

Cancer Science

Ryu, Jin-Sun JS; Lee, Hye-Young HY; Cho, Eun Hae EH; Yoon, Kyong-Ah KA; Kim, Min-Kyeong MK; Joo, Jungnam J; Lee, Eun-Sook ES; Kang, Han-Sung HS; Lee, Seeyoun S; Lee, Dong Ock DO; Lim, Myong Cheol MC; Kong, Sun-Young SY

Publication Date: 2020-10

Variant appearance in text: CHEK2: 1555C>T; Arg519*

PubMed Link: 32761968

Variant Present in the following documents:

• Main text
• CAS-111-3912.pdf

View BVdb publication page

---

The genomic and epigenomic evolutionary history of papillary renal cell carcinomas.

Nature Communications

Zhu, Bin B; Poeta, Maria Luana ML; Costantini, Manuela M; Zhang, Tongwu T; Shi, Jianxin J; Sentinelli, Steno S; Zhao, Wei W; Pompeo, Vincenzo V; Cardelli, Maurizio M; Alexandrov, Boian S BS; Otlu, Burcak B; Hua, Xing X; Jones, Kristine K; Brodie, Seth S; Dabrowska, Malgorzata Ewa ME; Toro, Jorge R JR; Yeager, Meredith M; Wang, Mingyi M; Hicks, Belynda B; Alexandrov, Ludmil B LB; Brown, Kevin M KM; Wedge, David C DC; Chanock, Stephen S; Fazio, Vito Michele VM; Gallucci, Michele M; Landi, Maria Teresa MT

Publication Date: 2020-06-18

Variant appearance in text: rs200432447

PubMed Link: 32555180

Variant Present in the following documents:

• 41467_2020_16546_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

---

CDK12-Altered Prostate Cancer: Clinical Features and Therapeutic Outcomes to Standard Systemic Therapies, Poly (ADP-Ribose) Polymerase Inhibitors, and PD-1 Inhibitors.

Jco Precision Oncology

Antonarakis, Emmanuel S ES; Isaacsson Velho, Pedro P; Fu, Wei W; Wang, Hao H; Agarwal, Neeraj N; Sacristan Santos, Victor V; Maughan, Benjamin L BL; Pili, Roberto R; Adra, Nabil N; Sternberg, Cora N CN; Vlachostergios, Panagiotis J PJ; Tagawa, Scott T ST; Bryce, Alan H AH; McNatty, Andrea L AL; Reichert, Zachery R ZR; Dreicer, Robert R; Sartor, Oliver O; Lotan, Tamara L TL; Hussain, Maha M

Publication Date: 2020

Variant appearance in text: CHEK2: R519X

PubMed Link: 32462107

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.

Geburtshilfe Und Frauenheilkunde

Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A

Publication Date: 2020-04

Variant appearance in text: CHEK2: 1555C>T

PubMed Link: 32322110

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Dosimetry, Radiobiology and Synthetic Lethality: Radiopharmaceutical Therapy (RPT) With Alpha-Particle-Emitters.

Seminars In Nuclear Medicine

Sgouros, George G

Publication Date: 2020-03

Variant appearance in text: CHEK2: 1555C>T

PubMed Link: 32172797

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Yadav, Siddhartha S; Hu, Chunling C; Hart, Steven N SN; Boddicker, Nicholas N; Polley, Eric C EC; Na, Jie J; Gnanaolivu, Rohan R; Lee, Kun Y KY; Lindstrom, Tricia T; Armasu, Sebastian S; Fitz-Gibbon, Patrick P; Ghosh, Karthik K; Stan, Daniela L DL; Pruthi, Sandhya S; Neal, Lonzetta L; Sandhu, Nicole N; Rhodes, Deborah J DJ; Klassen, Christine C; Peethambaram, Prema P PP; Haddad, Tufia C TC; Olson, Janet E JE; Hoskin, Tanya L TL; Goetz, Matthew P MP; Domchek, Susan M SM; Boughey, Judy C JC; Ruddy, Kathryn J KJ; Couch, Fergus J FJ

Publication Date: 2020-05-01

Variant appearance in text: CHEK2: Arg519X

PubMed Link: 32125938

Variant Present in the following documents:

• JCO.19.02190.pdf

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: CHEK2: 1555C>T; R519*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: rs200432447

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

---

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: rs200432447

PubMed Link: 31398194

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Cancers

Fernandez-Rozadilla, Ceres C; Alvarez-Barona, Miriam M; Schamschula, Esther E; Bodo, Sahra S; Lopez-Novo, Anael A; Dacal, Andres A; Calviño-Costas, Consuelo C; Lancho, Angel A; Amigo, Jorge J; Bello, Xabier X; Cameselle-Teijeiro, Jose Manuel JM; Carracedo, Angel A; Colas, Chrystelle C; Muleris, Martine M; Wimmer, Katharina K; Ruiz-Ponte, Clara C

Publication Date: 2019-07-30

Variant appearance in text: CHEK2: 1555C>T

PubMed Link: 31366136

Variant Present in the following documents:

• cancers-11-01081-s001.pdf

View BVdb publication page

---

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice

Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S

Publication Date: 2019

Variant appearance in text: CHEK2: 1555C>T; Arg519*

PubMed Link: 30680046

Variant Present in the following documents:

• Main text
• 13053_2018_102_MOESM5_ESM.xlsx, sheet 1
• 13053_2018_Article_102.pdf

View BVdb publication page

---

Efficacy of Radium-223 in Bone-metastatic Castration-resistant Prostate Cancer with and Without Homologous Repair Gene Defects.

European Urology

Isaacsson Velho, Pedro P; Qazi, Fahad F; Hassan, Sayeedul S; Carducci, Michael A MA; Denmeade, Samuel R SR; Markowski, Mark C MC; Thorek, Daniel L DL; DeWeese, Theodore L TL; Song, Daniel Y DY; Tran, Phuoc T PT; Eisenberger, Mario A MA; Antonarakis, Emmanuel S ES

Publication Date: 2019-08

Variant appearance in text: CHEK2: 1555C>T

PubMed Link: 30293905

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 1555C>T; Arg519*; rs200432447

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

---

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Hereditary Cancer In Clinical Practice

Gardner, Sabrina A SA; Weymouth, Katelyn S KS; Kelly, Wei S WS; Bogdanova, Ekaterina E; Chen, Wenjie W; Lupu, Daniel D; Suhl, Joshua J; Zeng, Qiandong Q; Geigenmüller, Ute U; Boles, Debbie D; Okamoto, Patricia M PM; McDowell, Geraldine G; Hayden, Melissa A MA; Nagan, Narasimhan N

Publication Date: 2018

Variant appearance in text: CHEK2: 1555C>T; Arg519*

PubMed Link: 29308099

Variant Present in the following documents:

• Main text
• 13053_2017_Article_83.pdf
• 13053_2017_83_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.

Cancer Research And Treatment

Eoh, Kyung Jin KJ; Kim, Ji Eun JE; Park, Hyung Seok HS; Lee, Seung-Tae ST; Park, Ji Soo JS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Sunghoon S; Kim, Sang Wun SW; Kim, Jae Hoon JH; Kim, Young Tae YT; Nam, Eun Ji EJ

Publication Date: 2018-07

Variant appearance in text: CHEK2: 1555C>T; Arg519Ter

PubMed Link: 29020732

Variant Present in the following documents:

• Main text
• crt-2017-220.pdf

View BVdb publication page

---

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: 1555C>T; Arg519Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Frequent amplification of receptor tyrosine kinase genes in welldifferentiated/ dedifferentiated liposarcoma.

Oncotarget

Asano, Naofumi N; Yoshida, Akihiko A; Mitani, Sachiyo S; Kobayashi, Eisuke E; Shiotani, Bunsyo B; Komiyama, Motokiyo M; Fujimoto, Hiroyuki H; Chuman, Hirokazu H; Morioka, Hideo H; Matsumoto, Morio M; Nakamura, Masaya M; Kubo, Takashi T; Kato, Mamoru M; Kohno, Takashi T; Kawai, Akira A; Kondo, Tadashi T; Ichikawa, Hitoshi H

Publication Date: 2017-02-21

Variant appearance in text: CHEK2: R519X

PubMed Link: 28099935

Variant Present in the following documents:

• oncotarget-08-12941-s003.xlsx, sheet 1

View BVdb publication page

---

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: rs200432447

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

View BVdb publication page

---

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

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

Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK

Publication Date: 2016-08

Variant appearance in text: CHEK2: 1555C>T; Arg519Ter

PubMed Link: 26681312

Variant Present in the following documents:

View BVdb publication page

---

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

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

Maxwell, Kara N KN; Wubbenhorst, Bradley B; D'Andrea, Kurt K; Garman, Bradley B; Long, Jessica M JM; Powers, Jacquelyn J; Rathbun, Katherine K; Stopfer, Jill E JE; Zhu, Jiajun J; Bradbury, Angela R AR; Simon, Michael S MS; DeMichele, Angela A; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2015-08

Variant appearance in text: CHEK2: 1555C>T; R519X

PubMed Link: 25503501

Variant Present in the following documents:

• Main text
• nihms641969.pdf

View BVdb publication page

---