Publications:

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Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications

Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G

Publication Date: 2022-07-06

Variant appearance in text: rs11202592

PubMed Link: 35794096

Variant Present in the following documents:

• 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Establishment of patient-derived organoids and a characterization-based drug discovery platform for treatment of pancreatic cancer.

Bmc Cancer

Watanabe, Sadanori S; Yogo, Akitada A; Otsubo, Tsuguteru T; Umehara, Hiroki H; Oishi, Jun J; Kodo, Toru T; Masui, Toshihiko T; Takaishi, Shigeo S; Seno, Hiroshi H; Uemoto, Shinji S; Hatano, Etsuro E

Publication Date: 2022-05-03

Variant appearance in text: PTEN: -9C>G; rs11202592

PubMed Link: 35505283

Variant Present in the following documents:

• 12885_2022_9619_MOESM1_ESM.xlsx, sheet 7

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: rs11202592

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences

Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q

Publication Date: 2021

Variant appearance in text: PTEN: -9C>G; rs11202592

PubMed Link: 34104084

Variant Present in the following documents:

• ijmsv18p2532s2.xlsx, sheet 4

View BVdb publication page

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First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: rs11202592

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: rs11202592

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs11202592

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genotyping data of routinely processed matched primary/metastatic tumor samples.

Data In Brief

Kotoula, Vassiliki V; Chatzopoulos, Kyriakos K; Papadopoulou, Kyriaki K; Giannoulatou, Eleni E; Koliou, Georgia-Angeliki GA; Karavasilis, Vasilios V; Pazarli, Elissavet E; Pervana, Stavroula S; Kafiri, Georgia G; Tsoulfas, Georgios G; Chrisafi, Sofia S; Sgouramali, Helen H; Papakostas, Pavlos P; Pectasides, Dimitrios D; Hytiroglou, Prodromos P; Pentheroudakis, George G; Fountzilas, George G

Publication Date: 2021-02

Variant appearance in text: rs11202592

PubMed Link: 33365374

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Therapeutic Advances In Medical Oncology

Yang, Hong H; Liu, Zhimin Z; Wang, Yufang Y; Li, Jun J; Li, Ruiqian R; Wang, Qilin Q; Hu, Chen C; Jiang, Haiyang H; Wu, Hongyi H; Song, Lele L; Bai, Yu Y

Publication Date: 2020

Variant appearance in text: rs11202592

PubMed Link: 33240400

Variant Present in the following documents:

• Main text

View BVdb publication page

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MLH1 single-nucleotide variant in circulating tumor DNA predicts overall survival of patients with hepatocellular carcinoma.

Scientific Reports

Kim, Soon Sun SS; Eun, Jung Woo JW; Choi, Ji-Hye JH; Woo, Hyun Goo HG; Cho, Hyo Jung HJ; Ahn, Hye Ri HR; Suh, Chul Won CW; Baek, Geum Ok GO; Cho, Sung Won SW; Cheong, Jae Youn JY

Publication Date: 2020-10-20

Variant appearance in text: rs11202592

PubMed Link: 33082400

Variant Present in the following documents:

• Main text
• 41598_2020_Article_74494.pdf

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: PTEN: -9C>G; rs11202592

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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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs11202592

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: rs11202592

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs11202592

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: rs11202592

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Association of p53 codon72 Arg>Pro polymorphism with susceptibility to nasopharyngeal carcinoma: evidence from a case-control study and meta-analysis.

Oncogenesis

Sahu, S K SK; Chakrabarti, S S; Roy, S D SD; Baishya, N N; Reddy, R R RR; Suklabaidya, S S; Kumar, A A; Mohanty, S S; Maji, S S; Suryanwanshi, A A; Rajasubramaniam, S S; Asthana, M M; Panda, A K AK; Singh, S P SP; Ganguly, S S; Shaw, O P OP; Bichhwalia, A K AK; Sahoo, P K PK; Chattopadhyay, N R NR; Chatterjee, K K; Kundu, C N CN; Das, A K AK; Kannan, R R; Zorenpuii, ; Zomawia, E E; Sema, S A SA; Singh, Y I YI; Ghosh, S K SK; Sharma, K K; Das, B S BS; Choudhuri, T T

Publication Date: 2016-05-09

Variant appearance in text: rs11202592

PubMed Link: 27159678

Variant Present in the following documents:

• Main text
• oncsis201631a.pdf

View BVdb publication page

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Elevation of methylated DNA in KILLIN/PTEN in the plasma of patients with thyroid and/or breast cancer.

Oncotargets And Therapy

Ng, Enders K EK; Shin, Vivian Y VY; Leung, Candy P CP; Chan, Vivian W VW; Law, Fian B FB; Siu, Man T MT; Lang, Brian H BH; Ma, Edmond S ES; Kwong, Ava A

Publication Date: 2014

Variant appearance in text: rs11202592

PubMed Link: 25419146

Variant Present in the following documents:

• Main text
• ott-7-2085.pdf

View BVdb publication page

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Combined effects of genetic variants of the PTEN, AKT1, MDM2 and p53 genes on the risk of nasopharyngeal carcinoma.

Plos One

Zhang, Xiaoai X; Chen, Xi X; Zhai, Yun Y; Cui, Ying Y; Cao, Pengbo P; Zhang, Hongxing H; Wu, Zhihao Z; Li, Peiyao P; Yu, Lixa L; Xia, Xia X; He, Fuchu F; Zhou, Gangqiao G

Publication Date: 2014

Variant appearance in text: rs11202592

PubMed Link: 24632578

Variant Present in the following documents:

• Main text
• pone.0092135.pdf

View BVdb publication page

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