Publications:

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: CHEK2: 252A>G; E84E; rs1805129

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: CHEK2: 252A>G; rs1805129

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

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: 252A>G; E84E; rs1805129

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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Status of CHEK2 and p53 in patients with early-onset and conventional gastric cancer.

Oncology Letters

Machlowska, Julita J; Kapusta, Przemysław P; Szlendak, Małgorzata M; Bogdali, Anna A; Morsink, Folkert F; Wołkow, Paweł P; Maciejewski, Ryszard R; Offerhaus, G Johan A GJA; Sitarz, Robert R

Publication Date: 2021-05

Variant appearance in text: CHEK2: 252A>G; Glu84Glu

PubMed Link: 33747205

Variant Present in the following documents:

• Main text
• Supplementary_Data3.pdf
• ol-21-05-12609.pdf

View BVdb publication page

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Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene

Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N

Publication Date: 2020-05

Variant appearance in text: CHEK2: E84E; rs1805129

PubMed Link: 32300177

Variant Present in the following documents:

• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1

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: CHEK2: 252A>G; Glu84=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: CHEK2: 252A>G; rs1805129

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: CHEK2: E84E; rs1805129

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: CHEK2: 252A>G

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
• 41467_2019_10489_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs1805129

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

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: 252A>G; Glu84Glu; rs1805129

PubMed Link: 30287823

Variant Present in the following documents:

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

View BVdb publication page

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Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics

Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF

Publication Date: 2017-11

Variant appearance in text: rs1805129

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp007.pdf
• jmedgenet-2017-104588supp005.pdf

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: 252A>G; Glu84=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Plos One

Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM

Publication Date: 2017

Variant appearance in text: CHEK2: E84E; rs1805129

PubMed Link: 28076423

Variant Present in the following documents:

• pone.0167581.s001.xlsx, sheet 1

View BVdb publication page

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Whole Exome Sequencing in Atrial Fibrillation.

Plos Genetics

Lubitz, Steven A SA; Brody, Jennifer A JA; Bihlmeyer, Nathan A NA; Roselli, Carolina C; Weng, Lu-Chen LC; Christophersen, Ingrid E IE; Alonso, Alvaro A; Boerwinkle, Eric E; Gibbs, Richard A RA; Bis, Joshua C JC; , ; Cupples, L Adrienne LA; Mohler, Peter J PJ; Nickerson, Deborah A DA; Muzny, Donna D; Perez, Marco V MV; Psaty, Bruce M BM; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Lunetta, Kathryn L KL; Benjamin, Emelia J EJ; Heckbert, Susan R SR; Arking, Dan E DE; Ellinor, Patrick T PT; Lin, Honghuang H

Publication Date: 2016-09

Variant appearance in text: rs1805129

PubMed Link: 27589061

Variant Present in the following documents:

• Main text
• pgen.1006284.pdf

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: CHEK2: 252A>G; rs1805129

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page

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Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma.

Plos One

Havranek, Ondrej O; Kleiblova, Petra P; Hojny, Jan J; Lhota, Filip F; Soucek, Pavel P; Trneny, Marek M; Kleibl, Zdenek Z

Publication Date: 2015

Variant appearance in text: CHEK2: 252A>G; E84E; rs1805129

PubMed Link: 26506619

Variant Present in the following documents:

• Main text
• pone.0140819.s009.xlsx, sheet 1

View BVdb publication page

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Low prevalence of CHEK2 gene mutations in multiethnic cohorts of breast cancer patients in Malaysia.

Plos One

Mohamad, Suriati S; Isa, Nurismah Md NM; Muhammad, Rohaizak R; Emran, Nor Aina NA; Kitan, Nor Mayah NM; Kang, Peter P; Kang, In Nee IN; Taib, Nur Aishah Mohd NA; Teo, Soo Hwang SH; Akmal, Sharifah Noor SN

Publication Date: 2015

Variant appearance in text: CHEK2: 252A>G; E84E

PubMed Link: 25629968

Variant Present in the following documents:

• Main text
• pone.0117104.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CHEK2: E84E; rs1805129

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Constitutional CHEK2 mutations are infrequent in early-onset and familial breast/ovarian cancer patients from Pakistan.

Bmc Cancer

Rashid, Muhammad U MU; Muhammad, Noor N; Faisal, Saima S; Amin, Asim A; Hamann, Ute U

Publication Date: 2013-06-27

Variant appearance in text: CHEK2: 252A>G; rs1805129

PubMed Link: 23806170

Variant Present in the following documents:

• Main text
• 1471-2407-13-312.pdf

View BVdb publication page

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CHEK2 genomic and proteomic analyses reveal genetic inactivation or endogenous activation across the 60 cell lines of the US National Cancer Institute.

Oncogene

Zoppoli, G G; Solier, S S; Reinhold, W C WC; Liu, H H; Connelly, J W JW; Monks, A A; Shoemaker, R H RH; Abaan, O D OD; Davis, S R SR; Meltzer, P S PS; Doroshow, J H JH; Pommier, Y Y

Publication Date: 2012-01-26

Variant appearance in text: rs1805129

PubMed Link: 21765476

Variant Present in the following documents:

• Main text

View BVdb publication page

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The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

Hereditary Cancer In Clinical Practice

Ruijs, Marielle W G MW; Broeks, Annegien A; Menko, Fred H FH; Ausems, Margreet G E M MG; Wagner, Anja A; Oldenburg, Rogier R; Meijers-Heijboer, Hanne H; van't Veer, Laura J LJ; Verhoef, Senno S

Publication Date: 2009-02-17

Variant appearance in text: CHEK2: 252A>G; Glu84Glu

PubMed Link: 19338683

Variant Present in the following documents:

• Main text

View BVdb publication page

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CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

Plos One

Chrisanthar, Ranjan R; Knappskog, Stian S; Løkkevik, Erik E; Anker, Gun G; Østenstad, Bjørn B; Lundgren, Steinar S; Berge, Elisabet O EO; Risberg, Terje T; Mjaaland, Ingvil I; Maehle, Lovise L; Engebretsen, Lars Fredrik LF; Lillehaug, Johan Richard JR; Lønning, Per Eystein PE

Publication Date: 2008-08-26

Variant appearance in text: CHEK2: Glu84Glu

PubMed Link: 18725978

Variant Present in the following documents:

• Main text
• pone.0003062.pdf

View BVdb publication page

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Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women.

Bmc Cancer

Novak, David J DJ; Chen, Long Qi LQ; Ghadirian, Parviz P; Hamel, Nancy N; Zhang, Phil P; Rossiny, Vanessa V; Cardinal, Guy G; Robidoux, André A; Tonin, Patricia N PN; Rousseau, Francois F; Narod, Steven A SA; Foulkes, William D WD

Publication Date: 2008-08-15

Variant appearance in text: CHEK2: E84E

PubMed Link: 18706089

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs1805129

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.

American Journal Of Human Genetics

Schutte, Mieke M; Seal, Sheila S; Barfoot, Rita R; Meijers-Heijboer, Hanne H; Wasielewski, Marijke M; Evans, D Gareth DG; Eccles, Diana D; Meijers, Carel C; Lohman, Frans F; Klijn, Jan J; van den Ouweland, Ans A; Futreal, P Andrew PA; Nathanson, Katherine L KL; Weber, Barbara L BL; Easton, Douglas F DF; Stratton, Michael R MR; Rahman, Nazneen N; ,

Publication Date: 2003-04

Variant appearance in text: CHEK2: E84E

PubMed Link: 12610780

Variant Present in the following documents:

• Main text

View BVdb publication page

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