Publications:

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: rs17880604

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

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: rs17880604

PubMed Link: 35864085

Variant Present in the following documents:

• 41467_2022_Article_31982.pdf

View BVdb publication page

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Clinical Impact of X-Ray Repair Cross-Complementary 1 (XRCC1) and the Immune Environment in Colorectal Adenoma-Carcinoma Pathway Progression.

Journal Of Inflammation Research

Zhang, Yu Y; Zhang, Xin X; Jin, Zhuoyi Z; Chen, Huiyan H; Zhang, Chenjing C; Wang, Wangyue W; Jing, Jiyong J; Pan, Wensheng W

Publication Date: 2021

Variant appearance in text: rs17880604

PubMed Link: 34737598

Variant Present in the following documents:

• Main text
• jir-14-5403.pdf

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: 673-36G>C; rs17880604

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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Analysis of TP53 gene and particular infrastructural alterations in invasive ductal mammary carcinoma.

Romanian Journal Of Morphology And Embryology = Revue Roumaine De Morphologie Et Embryologie

Mihalcea, Corina Elena CE; Moroşanu, Ana Maria AM; Murăraşu, Daniela D; Puiu, Liliana L; Cinca, Sabin Aurel SA; Voinea, Silviu Cristian SC; Mirancea, Nicolae N

Publication Date: 2020

Variant appearance in text: rs17880604

PubMed Link: 33544795

Variant Present in the following documents:

• Main text
• RJME-61-2-441.pdf

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: rs17880604

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: rs17880604

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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Pattern of nucleotide variants of TP53 and their correlation with the expression of p53 and its downstream proteins in a Sri Lankan cohort of breast and colorectal cancer patients.

Bmc Cancer

Manoharan, Vahinipriya V; Karunanayake, Eric Hamilton EH; Tennekoon, Kamani Hemamala KH; De Silva, Sumadee S; Imthikab, Ahamed Ilyas Ahamed AIA; De Silva, Kanishka K; Angunawela, Preethika P; Vishwakula, Sameera S; Lunec, John J

Publication Date: 2020-01-30

Variant appearance in text: TP53: 673-36G>C; rs17880604

PubMed Link: 32000721

Variant Present in the following documents:

• Main text
• 12885_2020_Article_6573.pdf

View BVdb publication page

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Haplotype and linkage disequilibrium of TP53-WRAP53 locus in Iranian-Azeri women with breast cancer.

Plos One

Pouladi, Nasser N; Abdolahi, Sepehr S; Farajzadeh, Davoud D; Hosseinpour Feizi, Mohammad Ali MA

Publication Date: 2019

Variant appearance in text: rs17880604

PubMed Link: 31387111

Variant Present in the following documents:

• Main text
• pone.0220727.pdf

View BVdb publication page

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Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer.

Molecular Medicine Reports

Manoharan, Vahinipriya V; Karunanayake, Eric Hamilton EH; Tennekoon, Kamani Hemamala KH; De Silva, Sumadee S; De Silva, Kanishka K; Angunawela, Preethika P; Lunec, John J

Publication Date: 2019-04

Variant appearance in text: TP53: 673-36G>C; rs17880604

PubMed Link: 30816478

Variant Present in the following documents:

• Main text
• mmr-19-04-2781.pdf

View BVdb publication page

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Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine

Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V

Publication Date: 2019-03

Variant appearance in text: rs17880604

PubMed Link: 30737087

Variant Present in the following documents:

• mmc1.xlsx, sheet 9

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: rs17880604

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts.

Scientific Reports

Haque, Mohammed Moquitul MM; Kowtal, Pradnya P; Sarin, Rajiv R

Publication Date: 2018-08-03

Variant appearance in text: rs17880604

PubMed Link: 30076369

Variant Present in the following documents:

• Main text
• 41598_2018_Article_30238.pdf

View BVdb publication page

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Genetic susceptibility to bone and soft tissue sarcomas: a field synopsis and meta-analysis.

Oncotarget

Benna, Clara C; Simioni, Andrea A; Pasquali, Sandro S; De Boni, Davide D; Rajendran, Senthilkumar S; Spiro, Giovanna G; Colombo, Chiara C; Virgone, Calogero C; DuBois, Steven G SG; Gronchi, Alessandro A; Rossi, Carlo Riccardo CR; Mocellin, Simone S

Publication Date: 2018-04-06

Variant appearance in text: rs17880604

PubMed Link: 29719630

Variant Present in the following documents:

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: rs17880604

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 1

View BVdb publication page

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Liver cancer with concomitant TP53 and CTNNB1 mutations: a case report.

Bmc Clinical Pathology

Friemel, Juliane J; Rechsteiner, Markus M; Bawohl, Marion M; Frick, Lukas L; Müllhaupt, Beat B; Lesurtel, Mickaël M; Weber, Achim A

Publication Date: 2016

Variant appearance in text: rs17880604

PubMed Link: 27252594

Variant Present in the following documents:

• Main text
• 12907_2016_Article_29.pdf

View BVdb publication page

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: rs17880604

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 1
• pone.0127146.s014.xlsx, sheet 3
• pone.0127146.s014.xlsx, sheet 4

View BVdb publication page

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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: 673-36G>C; rs17880604

PubMed Link: 25925845

Variant Present in the following documents:

• Main text
• 12881_2015_Article_169.pdf

View BVdb publication page

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Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Nature Communications

Castro-Vega, Luis Jaime LJ; Letouzé, Eric E; Burnichon, Nelly N; Buffet, Alexandre A; Disderot, Pierre-Hélie PH; Khalifa, Emmanuel E; Loriot, Céline C; Elarouci, Nabila N; Morin, Aurélie A; Menara, Mélanie M; Lepoutre-Lussey, Charlotte C; Badoual, Cécile C; Sibony, Mathilde M; Dousset, Bertrand B; Libé, Rossella R; Zinzindohoue, Franck F; Plouin, Pierre François PF; Bertherat, Jérôme J; Amar, Laurence L; de Reyniès, Aurélien A; Favier, Judith J; Gimenez-Roqueplo, Anne-Paule AP

Publication Date: 2015-01-27

Variant appearance in text: TP53: 673-36G>C; rs17880604

PubMed Link: 25625332

Variant Present in the following documents:

• ncomms7044-s4.xlsx, sheet 1

View BVdb publication page

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Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.

Nature Genetics

Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T

Publication Date: 2014-09

Variant appearance in text: rs17880604

PubMed Link: 25086664

Variant Present in the following documents:

• NIHMS612904-supplement-2.xlsx, sheet 8

View BVdb publication page

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Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach.

American Journal Of Epidemiology

O'Brien, Katie M KM; Cole, Stephen R SR; Poole, Charles C; Bensen, Jeannette T JT; Herring, Amy H AH; Engel, Lawrence S LS; Millikan, Robert C RC

Publication Date: 2014-02-01

Variant appearance in text: rs17880604

PubMed Link: 24218030

Variant Present in the following documents:

• Main text

View BVdb publication page

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Breast cancer subtypes and previously established genetic risk factors: a bayesian approach.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

O'Brien, Katie M KM; Cole, Stephen R SR; Engel, Lawrence S LS; Bensen, Jeannette T JT; Poole, Charles C; Herring, Amy H AH; Millikan, Robert C RC

Publication Date: 2014-01

Variant appearance in text: rs17880604

PubMed Link: 24177593

Variant Present in the following documents:

• Main text

View BVdb publication page

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Antigenic and Genotypic Similarity between Primary Glioblastomas and Their Derived Neurospheres.

Journal Of Oncology

Caldera, Valentina V; Mellai, Marta M; Annovazzi, Laura L; Piazzi, Angela A; Lanotte, Michele M; Cassoni, Paola P; Schiffer, Davide D

Publication Date: 2011

Variant appearance in text: rs17880604

PubMed Link: 21869887

Variant Present in the following documents:

• Main text
• JO2011-314962.pdf

View BVdb publication page

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Genetic variation in healthy oldest-old.

Plos One

Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR

Publication Date: 2009-08-14

Variant appearance in text: rs17880604

PubMed Link: 19680556

Variant Present in the following documents:

• pone.0006641.s001.xls, sheet 1

View BVdb publication page

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