Publications:

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: N/A

PubMed Link: 36269797

Variant Present in the following documents:

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Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics

Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E

Publication Date: 2022-10-17

Variant appearance in text: rs1803965

PubMed Link: 36253817

Variant Present in the following documents:

• 12920_2022_1372_MOESM1_ESM.xlsx, sheet 1
• 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: MGMT: L84L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: N/A

PubMed Link: 36075891

Variant Present in the following documents:

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: rs1803965

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1
• noac171_suppl_suplementary_table_s1.xlsx, sheet 1

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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: N/A

PubMed Link: 34054912

Variant Present in the following documents:

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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: MGMT: 252C>T; Leu84=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

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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: N/A

PubMed Link: 31470906

Variant Present in the following documents:

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Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies.

Ebiomedicine

Visioli, Alberto A; Giani, Fabrizio F; Trivieri, Nadia N; Pracella, Riccardo R; Miccinilli, Elide E; Cariglia, Maria Grazia MG; Palumbo, Orazio O; Arleo, Andrea A; Dezi, Fabio F; Copetti, Massimiliano M; Cajola, Laura L; Restelli, Silvia S; Papa, Valerio V; Sciuto, Antonio A; Latiano, Tiziana Pia TP; Carella, Massimo M; Amadori, Dino D; Gallerani, Giulia G; Ricci, Riccardo R; Alfieri, Sergio S; Pesole, Graziano G; Vescovi, Angelo L AL; Binda, Elena E

Publication Date: 2019-06

Variant appearance in text: MGMT: 252C>T; L84L

PubMed Link: 31056474

Variant Present in the following documents:

• mmc1.xls, sheet 1
• mmc3.xlsx, sheet 1

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: N/A

PubMed Link: 29221171

Variant Present in the following documents:

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Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Scientific Reports

Wang, Junjun J; Liu, Qingyun Q; Yuan, Shuai S; Xie, Weijia W; Liu, Yuan Y; Xiang, Ying Y; Wu, Na N; Wu, Long L; Ma, Xiangyu X; Cai, Tongjian T; Zhang, Yao Y; Sun, Zhifu Z; Li, Yafei Y

Publication Date: 2017-08-21

Variant appearance in text: rs1803965

PubMed Link: 28827732

Variant Present in the following documents:

• 41598_2017_7737_MOESM1_ESM.pdf

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SNP rs16906252C>T Is an Expression and Methylation Quantitative Trait Locus Associated with an Increased Risk of Developing MGMT-Methylated Colorectal Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Kuroiwa-Trzmielina, Joice J; Wang, Fan F; Rapkins, Robert W RW; Ward, Robyn L RL; Buchanan, Daniel D DD; Win, Aung Ko AK; Clendenning, Mark M; Rosty, Christophe C; Southey, Melissa C MC; Winship, Ingrid M IM; Hopper, John L JL; Jenkins, Mark A MA; Olivier, Jake J; Hawkins, Nicholas J NJ; Hitchins, Megan P MP

Publication Date: 2016-12-15

Variant appearance in text: rs1803965

PubMed Link: 27267851

Variant Present in the following documents:

• Main text

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Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).

Carcinogenesis

Xicola, Rosa M RM; Bontu, Sneha S; Doyle, Brian J BJ; Rawson, Jamie J; Garre, Pilar P; Lee, Esther E; de la Hoya, Miguel M; Bessa, Xavier X; Clofent, Joan J; Bujanda, Luis L; Balaguer, Francesc F; Castellví-Bel, Sergi S; Alenda, Cristina C; Jover, Rodrigo R; Ruiz-Ponte, Clara C; Syngal, Sapna S; Andreu, Montserrat M; Carracedo, Angel A; Castells, Antoni A; Newcomb, Polly A PA; Lindor, Noralane N; Potter, John D JD; Baron, John A JA; Ellis, Nathan A NA; Caldes, Trinidad T; LLor, Xavier X

Publication Date: 2016-08

Variant appearance in text: rs1803965

PubMed Link: 27234654

Variant Present in the following documents:

• Main text

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: N/A

PubMed Link: 25944692

Variant Present in the following documents:

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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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: N/A

PubMed Link: 24219164

Variant Present in the following documents:

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Sequence Variants and the Risk of Head and Neck Cancer: Pooled Analysis in the INHANCE Consortium.

Frontiers In Oncology

Chuang, Shu-Chun SC; Agudo, Antonio A; Ahrens, Wolfgang W; Anantharaman, Devasena D; Benhamou, Simone S; Boccia, Stefania S; Chen, Chu C; Conway, David I DI; Fabianova, Eleonora E; Hayes, Richard B RB; Healy, Claire M CM; Holcatova, Ivana I; Kjaerheim, Kristina K; Lagiou, Pagona P; Lazarus, Philip P; Macfarlane, Tatiana V TV; Mahimkar, Manoj B MB; Mates, Dana D; Matsuo, Keitaro K; Merletti, Franco F; Metspalu, Andres A; Morgenstern, Hal H; Muscat, Joshua J; Cadoni, Gabriella G; Olshan, Andrew F AF; Purdue, Mark M; Ramroth, Heribert H; Rudnai, Peter P; Schwartz, Stephen M SM; Simonato, Lorenzo L; Smith, Elaine M EM; Sturgis, Erich M EM; Szeszenia-Dabrowska, Neonilia N; Talamini, Renato R; Thomson, Peter P; Wei, Qingyi Q; Zaridze, David D; Zhang, Zuo-Feng ZF; Znaor, Ariana A; Brennan, Paul P; Boffetta, Paolo P; Hashibe, Mia M

Publication Date: 2011

Variant appearance in text: rs1803965

PubMed Link: 22655231

Variant Present in the following documents:

• Main text
• fonc-01-00013.pdf

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Polymorphisms of the DNA repair gene MGMT and risk and progression of head and neck cancer.

Dna Repair

Zhang, Zhengdong Z; Wang, Luo L; Wei, Sheng S; Liu, Zhensheng Z; Wang, Li-E LE; Sturgis, Erich M EM; Wei, Qingyi Q

Publication Date: 2010-05-04

Variant appearance in text: N/A

PubMed Link: 20206583

Variant Present in the following documents:

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Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

British Journal Of Cancer

Kweekel, D M DM; Antonini, N F NF; Nortier, J W R JW; Punt, C J A CJ; Gelderblom, H H; Guchelaar, H-J HJ

Publication Date: 2009-07-21

Variant appearance in text: rs1803965

PubMed Link: 19536092

Variant Present in the following documents:

• Main text

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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: rs1803965

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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Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.

Plos Genetics

Serre, David D; Gurd, Scott S; Ge, Bing B; Sladek, Robert R; Sinnett, Donna D; Harmsen, Eef E; Bibikova, Marina M; Chudin, Eugene E; Barker, David L DL; Dickinson, Todd T; Fan, Jian-Bing JB; Hudson, Thomas J TJ

Publication Date: 2008-02-29

Variant appearance in text: rs1803965

PubMed Link: 18454203

Variant Present in the following documents:

• Main text

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Human variants of O6-alkylguanine-DNA alkyltransferase.

Dna Repair

Pegg, Anthony E AE; Fang, Qingming Q; Loktionova, Natalia A NA

Publication Date: 2007-08-01

Variant appearance in text: rs1803965

PubMed Link: 17482892

Variant Present in the following documents:

• Main text

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Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.

Nucleic Acids Research

Milani, Lili L; Gupta, Manu M; Andersen, Malin M; Dhar, Sumeer S; Fryknäs, Mårten M; Isaksson, Anders A; Larsson, Rolf R; Syvänen, Ann-Christine AC

Publication Date: 2007

Variant appearance in text: rs1803965

PubMed Link: 17267408

Variant Present in the following documents:

• Main text
• gkl1152.pdf

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Effects of electron-beam irradiation on buccal-cell DNA.

American Journal Of Human Genetics

Castle, Philip E PE; Garcia-Closas, Montserrat M; Franklin, Tracie T; Chanock, Stephen S; Puri, Vinita V; Welch, Robert R; Rothman, Nathaniel N; Vaught, Jim J

Publication Date: 2003-09

Variant appearance in text: rs1803965

PubMed Link: 12917795

Variant Present in the following documents:

• Main text

View BVdb publication page

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