Publications:

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Association of Clinical Aspects and Genetic Variants with the Severity of Cisplatin-Induced Ototoxicity in Head and Neck Squamous Cell Carcinoma: A Prospective Cohort Study.

Cancers

Macedo, Ligia Traldi LT; Costa, Ericka Francislaine Dias EFD; Carvalho, Bruna Fernandes BF; Lourenço, Gustavo Jacob GJ; Calonga, Luciane L; Castilho, Arthur Menino AM; Chone, Carlos Takahiro CT; Lima, Carmen Silvia Passos CSP

Publication Date: 2023-03-14

Variant appearance in text: rs2303426

PubMed Link: 36980643

Variant Present in the following documents:

• Main text
• cancers-15-01759.pdf

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2303426

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Targeting DNA damage response as a potential therapeutic strategy for head and neck squamous cell carcinoma.

Frontiers In Oncology

Lei, Huimin H; He, Ading A; Jiang, Yingying Y; Ruan, Min M; Han, Nannan N

Publication Date: 2022

Variant appearance in text: rs2303426

PubMed Link: 36338767

Variant Present in the following documents:

• Main text
• fonc-12-1031944.pdf

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Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?

Child'S Nervous System : Chns : Official Journal Of The International Society For Pediatric Neurosurgery

Harder, Anja A

Publication Date: 2022-04

Variant appearance in text: rs2303426

PubMed Link: 34997843

Variant Present in the following documents:

• Main text
• 381_2021_Article_5436.pdf
• 381_2021_5436_MOESM1_ESM.pdf

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Single nucleotide polymorphisms and the risk of developing a second primary cancer among head and neck cancer patients: a systematic literature review and meta-analysis.

Bmc Cancer

Hoxhaj, Ilda I; Vukovic, Vladimir V; Boccia, Stefania S; Pastorino, Roberta R

Publication Date: 2021-06-02

Variant appearance in text: rs2303426

PubMed Link: 34078296

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8335.pdf

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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: rs2303426

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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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: rs2303426

PubMed Link: 33240400

Variant Present in the following documents:

• Main text

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs2303426

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.

Hereditary Cancer In Clinical Practice

Rashid, Muhammad Usman MU; Naeemi, Humaira H; Muhammad, Noor N; Loya, Asif A; Lubiński, Jan J; Jakubowska, Anna A; Yusuf, Muhammed Aasim MA

Publication Date: 2019

Variant appearance in text: rs2303426

PubMed Link: 31660093

Variant Present in the following documents:

• Main text
• 13053_2019_Article_128.pdf

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Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.

Journal Of Translational Medicine

Hamdi, Yosr Y; Boujemaa, Maroua M; Ben Rekaya, Mariem M; Ben Hamda, Cherif C; Mighri, Najah N; El Benna, Houda H; Mejri, Nesrine N; Labidi, Soumaya S; Daoud, Nouha N; Naouali, Chokri C; Messaoud, Olfa O; Chargui, Mariem M; Ghedira, Kais K; Boubaker, Mohamed Samir MS; Mrad, Ridha R; Boussen, Hamouda H; Abdelhak, Sonia S; ,

Publication Date: 2018-06-07

Variant appearance in text: rs2303426

PubMed Link: 29879995

Variant Present in the following documents:

• 12967_2018_Article_1504.pdf

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Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports

Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I

Publication Date: 2018-05-16

Variant appearance in text: rs2303426

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1

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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: rs2303426

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology

Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A

Publication Date: 2017-06-14

Variant appearance in text: rs2303426

PubMed Link: 28652652

Variant Present in the following documents:

• Main text
• WJG-23-3978.pdf

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Relevance of DNA repair gene polymorphisms to gastric cancer risk and phenotype.

Oncotarget

Carrera-Lasfuentes, Patricia P; Lanas, Angel A; Bujanda, Luis L; Strunk, Mark M; Quintero, Enrique E; Santolaria, Santos S; Benito, Rafael R; Sopeña, Federico F; Piazuelo, Elena E; Thomson, Concha C; Pérez-Aisa, Angeles A; Nicolás-Pérez, David D; Hijona, Elizabeth E; Espinel, Jesús J; Campo, Rafael R; Manzano, Marisa M; Geijo, Fernando F; Pellise, María M; Zaballa, Manuel M; González-Huix, Ferrán F; Espinós, Jorge J; Titó, Llúcia L; Barranco, Luis L; D'Amato, Mauro M; García-González, María Asunción MA

Publication Date: 2017-05-30

Variant appearance in text: rs2303426

PubMed Link: 28415781

Variant Present in the following documents:

• Main text
• oncotarget-08-35848.pdf

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Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Mutation Research

Srivastava, Kshitij K; Srivastava, Anvesha A; Sharma, Kiran Lata KL; Mittal, Balraj B

Publication Date: 2011

Variant appearance in text: rs2303426

PubMed Link: 21708280

Variant Present in the following documents:

• Main text

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Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One

Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E

Publication Date: 2011

Variant appearance in text: rs2303426

PubMed Link: 21695249

Variant Present in the following documents:

• pone.0018158.s001.xls, sheet 5

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Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.

Plos One

Srivastava, Kshitij K; Srivastava, Anvesha A; Kumar, Ashok A; Mittal, Balraj B

Publication Date: 2011-01-21

Variant appearance in text: rs2303426

PubMed Link: 21283657

Variant Present in the following documents:

• Main text

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Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Plos One

Offer, Steven M SM; Pan-Hammarström, Qiang Q; Hammarström, Lennart L; Harris, Reuben S RS

Publication Date: 2010-08-18

Variant appearance in text: rs2303426

PubMed Link: 20805886

Variant Present in the following documents:

• pone.0012260.s004.pdf

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