Publications:

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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>G; Arg519Gly

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Cystic angiomatosis in children: clinical experience and review of literature.

World Journal Of Surgical Oncology

Li, Wen Chao WC; Liu, Li L; Wang, Zhen Dong ZD; Chen, Hui H; Liu, Guang G; Feng, Zhi Chun ZC

Publication Date: 2022-12-09

Variant appearance in text: CHEK2: 1555C>G; R519G

PubMed Link: 36482360

Variant Present in the following documents:

• Main text
• 12957_2022_Article_2864.pdf

View BVdb publication page

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Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Leukemia

Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di Rorà, Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G

Publication Date: 2021-10

Variant appearance in text: CHEK2: R519G; rs200432447

PubMed Link: 34193978

Variant Present in the following documents:

• 41375_2021_1318_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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

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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

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: CHEK2: 1555C>G; R519G; rs200432447

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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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

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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: rs200432447

PubMed Link: 31398194

Variant Present in the following documents:

• Main text
• pone.0220711.pdf

View BVdb publication page

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Sensitization of chondrosarcoma cells with PARP inhibitor and high-LET radiation.

Journal Of Bone Oncology

Césaire, Mathieu M; Ghosh, Utpal U; Austry, Jean-Baptiste JB; Muller, Etienne E; Cammarata, Francesco Paolo FP; Guillamin, Marilyne M; Caruso, Massimo M; Castéra, Laurent L; Petringa, Giada G; Cirrone, Giuseppe Antonio Pablo GAP; Chevalier, François F

Publication Date: 2019-08

Variant appearance in text: CHEK2: 1555C>G; Arg519Gly

PubMed Link: 31312595

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers.

Nature Communications

Ando, Mizuo M; Saito, Yuki Y; Xu, Guorong G; Bui, Nam Q NQ; Medetgul-Ernar, Kate K; Pu, Minya M; Fisch, Kathleen K; Ren, Shuling S; Sakai, Akihiro A; Fukusumi, Takahito T; Liu, Chao C; Haft, Sunny S; Pang, John J; Mark, Adam A; Gaykalova, Daria A DA; Guo, Theresa T; Favorov, Alexander V AV; Yegnasubramanian, Srinivasan S; Fertig, Elana J EJ; Ha, Patrick P; Tamayo, Pablo P; Yamasoba, Tatsuya T; Ideker, Trey T; Messer, Karen K; Califano, Joseph A JA

Publication Date: 2019-05-16

Variant appearance in text: CHEK2: R519G

PubMed Link: 31097695

Variant Present in the following documents:

• 41467_2019_9937_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic and transcriptional evolution alters cancer cell line drug response.

Nature

Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR

Publication Date: 2018-08

Variant appearance in text: CHEK2: 1555C>G; R519G; rs200432447

PubMed Link: 30089904

Variant Present in the following documents:

• NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1

View BVdb publication page

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: CHEK2: R519G

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

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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

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Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas.

Nature Genetics

Palomero, Teresa T; Couronné, Lucile L; Khiabanian, Hossein H; Kim, Mi-Yeon MY; Ambesi-Impiombato, Alberto A; Perez-Garcia, Arianne A; Carpenter, Zachary Z; Abate, Francesco F; Allegretta, Maddalena M; Haydu, J Erika JE; Jiang, Xiaoyu X; Lossos, Izidore S IS; Nicolas, Concha C; Balbin, Milagros M; Bastard, Christian C; Bhagat, Govind G; Piris, Miguel A MA; Campo, Elias E; Bernard, Olivier A OA; Rabadan, Raul R; Ferrando, Adolfo A AA

Publication Date: 2014-02

Variant appearance in text: CHEK2: R519G

PubMed Link: 24413734

Variant Present in the following documents:

• NIHMS549899-supplement-2.xlsx, sheet 1

View BVdb publication page

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