Publications:

---

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs1800371

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7

View BVdb publication page

---

Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics

Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA

Publication Date: 2022-11-10

Variant appearance in text: TP53: 139C>A

PubMed Link: 36353970

Variant Present in the following documents:

• CGE-103-247-s001.xlsx, sheet 1

View BVdb publication page

---

The mutational landscape of cancer's vulnerability to ionizing radiation.

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

Gopal, Priyanka P; Yard, Brian D BD; Petty, Aaron A; Lal, Jessica C JC; Bera, Titas K TK; Hoang, Trung Q TQ; Buhimschi, Alexandru B AB; Abazeed, Mohamed E ME

Publication Date: 2022-10-12

Variant appearance in text: TP53: P47T

PubMed Link: 36222846

Variant Present in the following documents:

• ccr-22-1914_supplementary_data_3_suppds3.xlsx, sheet 1
• ccr-22-1914_supplementary_data_2_suppds2.xlsx, sheet 1

View BVdb publication page

---

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Briefings In Bioinformatics

Ben-Cohen, Gil G; Doffe, Flora F; Devir, Michal M; Leroy, Bernard B; Soussi, Thierry T; Rosenberg, Shai S

Publication Date: 2022-03-10

Variant appearance in text: p53: Pro47Thr

PubMed Link: 35043155

Variant Present in the following documents:

• supplementary_information_bbab524.pdf

View BVdb publication page

---

Spontaneous and inherited TP53 genetic alterations.

Oncogene

Levine, Arnold J AJ

Publication Date: 2021-10

Variant appearance in text: rs1800371

PubMed Link: 34389799

Variant Present in the following documents:

• Main text
• 41388_2021_Article_1991.pdf

View BVdb publication page

---

Spontaneous and inherited TP53 genetic alterations.

Oncogene

Levine, Arnold J AJ

Publication Date: 2021-10

Variant appearance in text: rs1800371

PubMed Link: 34389799

Variant Present in the following documents:

• Main text
• 41388_2021_Article_1991.pdf

View BVdb publication page

---

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: TP53: 139C>A; Pro47Thr

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

---

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Cancer Gene Therapy

Denisova, Evgeniya E; Westphal, Dana D; Surowy, Harald M HM; Meier, Friedegund F; Hutter, Barbara B; Reifenberger, Julia J; Rütten, Arno A; Schulz, Alexander A; Sergon, Mildred M; Ziemer, Mirjana M; Brors, Benedikt B; Betz, Regina C RC; Redler, Silke S

Publication Date: 2022-06

Variant appearance in text: TP53: 139C>A

PubMed Link: 34045664

Variant Present in the following documents:

• 41417_2021_347_MOESM4_ESM.xls, sheet 10

View BVdb publication page

---

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: rs1800371

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

---

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: rs1800371

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

---

Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance.

Science Advances

Toufektchan, Eléonore E; Lejour, Vincent V; Durand, Romane R; Giri, Neelam N; Draskovic, Irena I; Bardot, Boris B; Laplante, Pierre P; Jaber, Sara S; Alter, Blanche P BP; Londono-Vallejo, José-Arturo JA; Savage, Sharon A SA; Toledo, Franck F

Publication Date: 2020-04

Variant appearance in text: rs1800371

PubMed Link: 32300648

Variant Present in the following documents:

• Main text
• aay3511_SM.pdf
• aay3511.pdf

View BVdb publication page

---

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: rs1800371

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Systematic Review of Genetic Factors in the Etiology of Esophageal Squamous Cell Carcinoma in African Populations.

Frontiers In Genetics

Simba, Hannah H; Kuivaniemi, Helena H; Lutje, Vittoria V; Tromp, Gerard G; Sewram, Vikash V

Publication Date: 2019

Variant appearance in text: rs1800371

PubMed Link: 31428123

Variant Present in the following documents:

• Main text
• fgene-10-00642.pdf

View BVdb publication page

---

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 139C>A; Pro47Thr

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

---

Among 45 variants in 11 genes, HDM2 promoter polymorphisms emerge as new candidate biomarker associated with radiation toxicity.

3 Biotech

Alsbeih, Ghazi G; El-Sebaie, Medhat M; Al-Rajhi, Nasser N; Al-Harbi, Najla N; Al-Hadyan, Khaled K; Al-Qahtani, Sara S; Alsubael, Mohammad M; Al-Shabanah, Mohammad M; Moftah, Belal B

Publication Date: 2014-04

Variant appearance in text: rs1800371

PubMed Link: 28324443

Variant Present in the following documents:

• Main text
• 13205_2013_Article_135.pdf

View BVdb publication page

---

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: P47T

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

---

PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: TP53: P47T

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s004.xlsx, sheet 1

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1800371

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Investigation of genetic polymorphisms related to the outcome of radiotherapy for prostate cancer patients.

Disease Markers

Cintra, Hellen Silva HS; Pinezi, Juliana Castro Dourado JC; Machado, Graziella Dias Pinheiro GD; de Carvalho, Gustavo Moura GM; Carvalho, Ana Terra Silva AT; dos Santos, Thalles Eduardo Dias TE; Marciano, Ricardo Duarte RD; Soares, Renata de Bastos Ascenço Rde B

Publication Date: 2013

Variant appearance in text: rs1800371

PubMed Link: 24324286

Variant Present in the following documents:

• Main text

View BVdb publication page

---

SNPs in genes implicated in radiation response are associated with radiotoxicity and evoke roles as predictive and prognostic biomarkers.

Radiation Oncology (London, England)

Alsbeih, Ghazi G; El-Sebaie, Medhat M; Al-Harbi, Najla N; Al-Hadyan, Khaled K; Shoukri, Mohamed M; Al-Rajhi, Nasser N

Publication Date: 2013-05-22

Variant appearance in text: rs1800371

PubMed Link: 23697595

Variant Present in the following documents:

• Main text
• 1748-717X-8-125.pdf

View BVdb publication page

---

Molecular characterization of TP53 gene in human populations exposed to low-dose ionizing radiation.

Biomed Research International

Brasil-Costa, Igor I; Alencar, Dayse O DO; Raiol-Moraes, Milene M; Pessoa, Igor A IA; Brito, Alexandre W M AW; Jati, Schneyder R SR; Santos, Sidney E B SE; Burbano, Rommel M R RM; Ribeiro-dos-Santos, Andrea K C AK

Publication Date: 2013

Variant appearance in text: rs1800371

PubMed Link: 23586029

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Regulation of female reproduction by p53 and its family members.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Feng, Zhaohui Z; Zhang, Cen C; Kang, Hey-Joo HJ; Sun, Yvonne Y; Wang, Haijian H; Naqvi, Asad A; Frank, Amanda K AK; Rosenwaks, Zev Z; Murphy, Maureen E ME; Levine, Arnold J AJ; Hu, Wenwei W

Publication Date: 2011-07

Variant appearance in text: rs1800371

PubMed Link: 21402718

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Quantification of rare allelic variants from pooled genomic DNA.

Nature Methods

Druley, Todd E TE; Vallania, Francesco L M FL; Wegner, Daniel J DJ; Varley, Katherine E KE; Knowles, Olivia L OL; Bonds, Jacqueline A JA; Robison, Sarah W SW; Doniger, Scott W SW; Hamvas, Aaron A; Cole, F Sessions FS; Fay, Justin C JC; Mitra, Robi D RD

Publication Date: 2009-04

Variant appearance in text: rs1800371

PubMed Link: 19252504

Variant Present in the following documents:

• NIHMS92733-supplement-1.pdf

View BVdb publication page

---

Genes in glucose metabolism and association with spina bifida.

Reproductive Sciences (Thousand Oaks, Calif.)

Davidson, Christina M CM; Northrup, Hope H; King, Terri M TM; Fletcher, Jack M JM; Townsend, Irene I; Tyerman, Gayle H GH; Au, Kit Sing KS

Publication Date: 2008-01

Variant appearance in text: rs1800371

PubMed Link: 18212354

Variant Present in the following documents:

• Main text

View BVdb publication page

---