Publications:

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Association of TP53 Single Nucleotide Polymorphisms with Prostate Cancer in a Racially Diverse Cohort of Men.

Biomedicines

Duncan, Allison A; Nousome, Darryl D; Ricks, Randy R; Kuo, Huai-Ching HC; Ravindranath, Lakshmi L; Dobi, Albert A; Cullen, Jennifer J; Srivastava, Shiv S; Chesnut, Gregory T GT; Petrovics, Gyorgy G; Kohaar, Indu I

Publication Date: 2023-05-09

Variant appearance in text: rs2909430

PubMed Link: 37239075

Variant Present in the following documents:

• Main text
• biomedicines-11-01404.pdf

View BVdb publication page

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Clinical characteristics and genetic analysis of a Chinese pedigree of type 2 diabetes complicated with interstitial lung disease.

Frontiers In Endocrinology

Zhang, Qinghua Q; Wang, Yan Y; Tian, Chang C; Yu, Jinyan J; Li, Yanlei Y; Yang, Junling J

Publication Date: 2022

Variant appearance in text: rs2909430

PubMed Link: 36733806

Variant Present in the following documents:

• Main text
• fendo-13-1050200.pdf

View BVdb publication page

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Yes-associated protein 1 mediates initial cell survival during lorlatinib treatment through AKT signaling in ROS1-rearranged lung cancer.

Cancer Science

Yamazoe, Masatoshi M; Ozasa, Hiroaki H; Tsuji, Takahiro T; Funazo, Tomoko T; Yoshida, Hiroshi H; Hashimoto, Kentaro K; Hosoya, Kazutaka K; Ogimoto, Tatsuya T; Ajimizu, Hitomi H; Yoshida, Hironori H; Itotani, Ryo R; Sakamori, Yuichi Y; Kuninaga, Kiyomitsu K; Aoki, Wataru W; Hirai, Toyohiro T

Publication Date: 2022-10-26

Variant appearance in text: TP53: 376-91G>A; rs2909430

PubMed Link: 36285485

Variant Present in the following documents:

• CAS-114-546-s006.xlsx, sheet 1

View BVdb publication page

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Prognostic Model and Nomogram Construction and Validation With an Autophagy-Related Gene Signature in Low-Grade Gliomas.

Frontiers In Genetics

Li, Xinrui X; Huang, Zhiyuan Z; Zhu, Lei L; Yu, Fei F; Feng, Minghao M; Gu, Aiqin A; Jiang, Jianxin J; Wang, Guangxue G; Huang, Dongya D

Publication Date: 2022

Variant appearance in text: rs2909430

PubMed Link: 35923699

Variant Present in the following documents:

• Main text
• fgene-13-905751.pdf

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs2909430

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Biallelic and gene-wide genomic substitution for endogenous intron and retroelement mutagenesis in human cells.

Nature Communications

Ohno, Tomoyuki T; Akase, Taichi T; Kono, Shunya S; Kurasawa, Hikaru H; Takashima, Takuto T; Kaneko, Shinya S; Aizawa, Yasunori Y

Publication Date: 2022-07-21

Variant appearance in text: rs2909430

PubMed Link: 35864085

Variant Present in the following documents:

• 41467_2022_Article_31982.pdf

View BVdb publication page

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TP53 common variants and interaction with PPP1R13L and CD3EAP SNPs and lung cancer risk and smoking behavior in a Chinese population.

Biomedical Journal

Yin, Jiaoyang J; Hou, Wei W; Vogel, Ulla U; Li, Xinxin X; Ma, Yegang Y; Wang, Chunhong C; Wang, Huiwen H; Sun, Zhenxiang Z

Publication Date: 2022-02

Variant appearance in text: rs2909430

PubMed Link: 35351459

Variant Present in the following documents:

• Main text
• main.pdf

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: TP53: 376-91G>A; rs2909430

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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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs2909430

PubMed Link: 35112701

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-1-e20210172-s4.pdf
• 1415-4757-GMB-45-1-e20210172.pdf
• 1415-4757-GMB-45-1-e20210172-s6.pdf

View BVdb publication page

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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs2909430

PubMed Link: 35112701

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-1-e20210172-s4.pdf
• 1415-4757-GMB-45-1-e20210172.pdf
• 1415-4757-GMB-45-1-e20210172-s6.pdf

View BVdb publication page

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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: TP53: 376-91G>A; rs2909430

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Male and female breast cancer: the two faces of the same genetic susceptibility coin.

Breast Cancer Research And Treatment

Silva, Susana Nunes SN; Gomes, Bruno Costa BC; André, Saudade S; Félix, Ana A; Rodrigues, António Sebastião AS; Rueff, José J

Publication Date: 2021-07

Variant appearance in text: rs2909430

PubMed Link: 33942220

Variant Present in the following documents:

• Main text

View BVdb publication page

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Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology

Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R

Publication Date: 2021-04-16

Variant appearance in text: TP53: 376-91G>A; rs2909430

PubMed Link: 33863983

Variant Present in the following documents:

• 41698_2021_170_MOESM4_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: rs2909430

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: TP53: 376-91G>A; rs2909430

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs2909430

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs2909430

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma.

Cancers

Azzollini, Jacopo J; Schiavello, Elisabetta E; Buttarelli, Francesca Romana FR; Clerici, Carlo Alfredo CA; Tizzoni, Laura L; Vecchi, Giovanna De G; Capra, Fabio F; Pisati, Federica F; Biassoni, Veronica V; Runza, Letterio L; Carrabba, Giorgio G; Giangaspero, Felice F; Massimino, Maura M; Pensotti, Valeria V; Manoukian, Siranoush S

Publication Date: 2020-09-03

Variant appearance in text: rs2909430

PubMed Link: 32899294

Variant Present in the following documents:

• Main text

View BVdb publication page

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Intronic TP53 Polymorphisms Are Associated with Increased Δ133TP53 Transcript, Immune Infiltration and Cancer Risk.

Cancers

Eiholzer, Ramona A RA; Mehta, Sunali S; Kazantseva, Marina M; Drummond, Catherine J CJ; McKinney, Cushla C; Young, Katie K; Slater, David D; Morten, Brianna C BC; Avery-Kiejda, Kelly A KA; Lasham, Annette A; Fleming, Nicholas N; Morrin, Helen R HR; Reader, Karen K; Royds, Janice A JA; Landmann, Michael M; Petrich, Simone S; Reddel, Roger R; Huschtscha, Lily L; Taha, Ahmad A; Hung, Noelyn A NA; Slatter, Tania L TL; Braithwaite, Antony W AW

Publication Date: 2020-09-01

Variant appearance in text: rs2909430

PubMed Link: 32882831

Variant Present in the following documents:

• Main text
• cancers-12-02472.pdf

View BVdb publication page

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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: rs2909430

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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p53 protein expression affected by TP53 polymorphism is associated with the biological behavior and prognosis of low rectal cancer.

Oncology Letters

Zhang, Guangzhe G; Xu, Qian Q; Wang, Zeyang Z; Sun, Liping L; Lv, Zhi Z; Liu, Jingwei J; Xing, Chengzhong C; Yuan, Yuan Y

Publication Date: 2019-12

Variant appearance in text: rs2909430

PubMed Link: 31788124

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Journal Of Hematology & Oncology

Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R

Publication Date: 2019-11-19

Variant appearance in text: rs2909430

PubMed Link: 31744508

Variant Present in the following documents:

• 13045_2019_802_MOESM7_ESM.xlsx, sheet 1
• 13045_2019_802_MOESM4_ESM.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: TP53: 376-91G>A; rs2909430

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs2909430

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 3
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Five P53 SNPs Involved in Low Rectal Cancer Risk and Prognosis in a Chinese Population.

Journal Of Cancer

Zhang, Guangzhe G; Xu, Qian Q; Liu, Jingwei J; Lv, Zhi Z; Lu, Youzhu Y; Yang, Huaiwei H; Sun, Liping L; Xing, Chengzhong C; Yuan, Yuan Y

Publication Date: 2019

Variant appearance in text: rs2909430

PubMed Link: 31205533

Variant Present in the following documents:

• Main text
• jcav10p1772.pdf

View BVdb publication page

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Esophageal cancer genetics in South Africa.

Clinical And Experimental Gastroenterology

Alaouna, Mohammed M; Hull, Rodney R; Penny, Clement C; Dlamini, Zodwa Z

Publication Date: 2019

Variant appearance in text: rs2909430

PubMed Link: 31114287

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: TP53: 376-91G>A; rs2909430

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs2909430

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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: rs2909430

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

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Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.

Journal Of Breast Cancer

Sirisena, Nirmala Dushyanthi ND; Adeyemo, Adebowale A; Kuruppu, Anchala Ishani AI; Samaranayake, Nilakshi N; Dissanayake, Vajira Harshadeva Weerabaddana VHW

Publication Date: 2018-06

Variant appearance in text: rs2909430

PubMed Link: 29963112

Variant Present in the following documents:

• Main text
• jbc-21-165.pdf

View BVdb publication page

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Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Molecular Cytogenetics

Smetana, Jan J; Oppelt, Jan J; Štork, Martin M; Pour, Luděk L; Kuglík, Petr P

Publication Date: 2018

Variant appearance in text: TP53: 376-91G>A; rs2909430

PubMed Link: 29375670

Variant Present in the following documents:

• 13039_2018_357_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs2909430

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Clinical and Genetic Risk Prediction of Subsequent CNS Tumors in Survivors of Childhood Cancer: A Report From the COG ALTE03N1 Study.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Wang, Xuexia X; Sun, Can-Lan CL; Hageman, Lindsey L; Smith, Kandice K; Singh, Purnima P; Desai, Sunil S; Hawkins, Douglas S DS; Hudson, Melissa M MM; Mascarenhas, Leo L; Neglia, Joseph P JP; Oeffinger, Kevin C KC; Ritchey, A Kim AK; Robison, Leslie L LL; Villaluna, Doojduen D; Landier, Wendy W; Bhatia, Smita S

Publication Date: 2017-11-10

Variant appearance in text: rs2909430

PubMed Link: 28976792

Variant Present in the following documents:

• Main text

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: rs2909430

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Shared susceptibility loci at 2q33 region for lung and esophageal cancers in high-incidence areas of esophageal cancer in northern China.

Plos One

Zhao, Xue Ke XK; Mao, Yi Min YM; Meng, Hui H; Song, Xin X; Hu, Shou Jia SJ; Lv, Shuang S; Cheng, Rang R; Zhang, Tang Juan TJ; Han, Xue Na XN; Ren, Jing Li JL; Qi, Yi Jun YJ; Wang, Li Dong LD

Publication Date: 2017

Variant appearance in text: rs2909430

PubMed Link: 28542283

Variant Present in the following documents:

• Main text
• pone.0177504.pdf

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs2909430

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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: rs2909430

PubMed Link: 28076423

Variant Present in the following documents:

• pone.0167581.s001.xlsx, sheet 1

View BVdb publication page

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Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: rs2909430

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 2

View BVdb publication page

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Sex Steroid Hormone Single-Nucleotide Polymorphisms, Pesticide Use, and the Risk of Prostate Cancer: A Nested Case-Control Study within the Agricultural Health Study.

Frontiers In Oncology

Christensen, Carol H CH; Barry, Kathryn Hughes KH; Andreotti, Gabriella G; Alavanja, Michael C R MC; Cook, Michael B MB; Kelly, Scott P SP; Burdett, Laurie A LA; Yeager, Meredith M; Beane Freeman, Laura E LE; Berndt, Sonja I SI; Koutros, Stella S

Publication Date: 2016

Variant appearance in text: rs2909430

PubMed Link: 27917368

Variant Present in the following documents:

• Main text
• fonc-06-00237.pdf

View BVdb publication page

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The study of the relation of DNA repair pathway genes SNPs and the sensitivity to radiotherapy and chemotherapy of NSCLC.

Scientific Reports

Wang, Chunbo C; Nie, Huan H; Li, Yiqun Y; Liu, Guiyou G; Wang, Xu X; Xing, Shijie S; Zhang, Liping L; Chen, Xin X; Chen, Yue Y; Li, Yu Y

Publication Date: 2016-06-01

Variant appearance in text: rs2909430

PubMed Link: 27246533

Variant Present in the following documents:

• Main text
• srep26526.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2909430

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

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Effect of summer daylight exposure and genetic background on growth in growth hormone-deficient children.

The Pharmacogenomics Journal

De Leonibus, C C; Chatelain, P P; Knight, C C; Clayton, P P; Stevens, A A

Publication Date: 2016-11

Variant appearance in text: rs2909430

PubMed Link: 26503811

Variant Present in the following documents:

• Main text

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Germline TP53 mutational spectrum in French Canadians with breast cancer.

Bmc Medical Genetics

Arcand, Suzanna L SL; Akbari, Mohammed R MR; Mes-Masson, Anne-Marie AM; Provencher, Diane D; Foulkes, William D WD; Narod, Steven A SA; Tonin, Patricia N PN

Publication Date: 2015-04-12

Variant appearance in text: TP53: 376-91G>A; rs2909430

PubMed Link: 25925845

Variant Present in the following documents:

• Main text
• 12881_2015_Article_169.pdf

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