TP53 c.*1175A>C

Variant ID: 17-7571752-T-G

NM_000546.5(TP53):c.*1175A>C

This variant was identified in 115 publications

View GRCh38 version.




Publications:


Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.

Nature Communications
Sliz, Eeva E; Tyrmi, Jaakko S JS; Rahmioglu, Nilufer N; Zondervan, Krina T KT; Becker, Christian M CM; , ; Uimari, Outi O; Kettunen, Johannes J
Publication Date: 2023-02-01

Variant appearance in text: rs78378222
PubMed Link: 36726022
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_35974.pdf
View BVdb publication page



Genomics and Epigenomics in the Molecular Biology of Melanoma-A Prerequisite for Biomarkers Studies.

International Journal Of Molecular Sciences
Zob, Daniela Luminita DL; Augustin, Iolanda I; Caba, Lavinia L; Panzaru, Monica-Cristina MC; Popa, Setalia S; Popa, Alina Delia AD; Florea, Laura L; Gorduza, Eusebiu Vlad EV
Publication Date: 2022-12-31

Variant appearance in text: rs78378222
PubMed Link: 36614156
Variant Present in the following documents:
  • Main text
  • ijms-24-00716.pdf
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SNP-Target Genes Interaction Perturbing the Cancer Risk in the Post-GWAS.

Cancers
Yang, Wenmin W; Zhang, Te T; Song, Xuming X; Dong, Gaochao G; Xu, Lin L; Jiang, Feng F
Publication Date: 2022-11-17

Variant appearance in text: rs78378222
PubMed Link: 36428729
Variant Present in the following documents:
  • Main text
  • cancers-14-05636.pdf
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Genome-wide screening for genetic variants in polyadenylation signal (PAS) sites in mouse selection lines for fatness and leanness.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society
Šimon, Martin M; Mikec, Špela Š; Morton, Nicholas M NM; Atanur, Santosh S SS; Konc, Janez J; Horvat, Simon S; Kunej, Tanja T
Publication Date: 2022-11-21

Variant appearance in text: rs78378222
PubMed Link: 36414820
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epidemiological characteristics and genetic alterations in adult diffuse glioma in East Asian populations.

Cancer Biology & Medicine
Mo, Zongchao Z; Xin, Junyi J; Chai, Ruichao R; Woo, Peter Y M PYM; Chan, Danny T M DTM; Wang, Jiguang J
Publication Date: 2022-11-01

Variant appearance in text: rs78378222
PubMed Link: 36350002
Variant Present in the following documents:
  • Main text
  • cbm-19-1440.pdf
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Deciphering the impact of genetic variation on human polyadenylation using APARENT2.

Genome Biology
Linder, Johannes J; Koplik, Samantha E SE; Kundaje, Anshul A; Seelig, Georg G
Publication Date: 2022-11-05

Variant appearance in text: rs78378222
PubMed Link: 36335397
Variant Present in the following documents:
  • Main text
  • 13059_2022_Article_2799.pdf
View BVdb publication page



PLTP is a p53 target gene with roles in cancer growth suppression and ferroptosis.

The Journal Of Biological Chemistry
Gnanapradeepan, Keerthana K; Indeglia, Alexandra A; Stieg, David C DC; Clarke, Nicole N; Shao, Chunlei C; Dougherty, James F JF; Murali, Nivitha N; Murphy, Maureen E ME
Publication Date: 2022-10-26

Variant appearance in text: rs78378222
PubMed Link: 36309086
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Nanomaterial-assisted CRISPR gene-engineering - A hallmark for triple-negative breast cancer therapeutics advancement.

Materials Today. Bio
Farheen, Jabeen J; Hosmane, Narayan S NS; Zhao, Ruibo R; Zhao, Qingwei Q; Iqbal, M Zubair MZ; Kong, Xiangdong X
Publication Date: 2022-12

Variant appearance in text: rs78378222
PubMed Link: 36267139
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic risk factors have a substantial impact on healthy life years.

Nature Medicine
Jukarainen, Sakari S; Kiiskinen, Tuomo T; Kuitunen, Sara S; Havulinna, Aki S AS; Karjalainen, Juha J; Cordioli, Mattia M; Rämö, Joel T JT; Mars, Nina N; , ; Samocha, Kaitlin E KE; Ollila, Hanna M HM; Pirinen, Matti M; Ganna, Andrea A
Publication Date: 2022-09

Variant appearance in text: rs78378222
PubMed Link: 36097220
Variant Present in the following documents:
  • 41591_2022_Article_1957.pdf
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Case Report: Clinicopathological and Genetic Features of IDH-Mutant Brainstem Glioma in Adults: Report of Five Cases.

Pathology Oncology Research : Por
Zhou, Jiangfen J; Lai, Mingyao M; Ni, Yang Y; Li, Shaoqun S; Zhen, Junjie J; Du, Furong F; Zhang, Xing X; Song, Chao C; Cai, Linbo L
Publication Date: 2022

Variant appearance in text: rs78378222
PubMed Link: 35991838
Variant Present in the following documents:
  • Main text
  • pore-28-1610408.pdf
View BVdb publication page



Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score.

Prostate Cancer And Prostatic Diseases
Huynh-Le, Minh-Phuong MP; Karunamuni, Roshan R; Fan, Chun Chieh CC; Asona, Lui L; Thompson, Wesley K WK; Martinez, Maria Elena ME; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z; Muir, Kenneth R KR; Lophatananon, Artitaya A; Schleutker, Johanna J; Pashayan, Nora N; Batra, Jyotsna J; Grönberg, Henrik H; Neal, David E DE; Nordestgaard, Børge G BG; Tangen, Catherine M CM; MacInnis, Robert J RJ; Wolk, Alicja A; Albanes, Demetrius D; Haiman, Christopher A CA; Travis, Ruth C RC; Blot, William J WJ; Stanford, Janet L JL; Mucci, Lorelei A LA; West, Catharine M L CML; Nielsen, Sune F SF; Kibel, Adam S AS; Cussenot, Olivier O; Berndt, Sonja I SI; Koutros, Stella S; Sørensen, Karina Dalsgaard KD; Cybulski, Cezary C; Grindedal, Eli Marie EM; Menegaux, Florence F; Park, Jong Y JY; Ingles, Sue A SA; Maier, Christiane C; Hamilton, Robert J RJ; Rosenstein, Barry S BS; Lu, Yong-Jie YJ; Watya, Stephen S; Vega, Ana A; Kogevinas, Manolis M; Wiklund, Fredrik F; Penney, Kathryn L KL; Huff, Chad D CD; Teixeira, Manuel R MR; Multigner, Luc L; Leach, Robin J RJ; Brenner, Hermann H; John, Esther M EM; Kaneva, Radka R; Logothetis, Christopher J CJ; Neuhausen, Susan L SL; De Ruyck, Kim K; Ost, Piet P; Razack, Azad A; Newcomb, Lisa F LF; Fowke, Jay H JH; Gamulin, Marija M; Abraham, Aswin A; Claessens, Frank F; Castelao, Jose Esteban JE; Townsend, Paul A PA; Crawford, Dana C DC; Petrovics, Gyorgy G; van Schaik, Ron H N RHN; Parent, Marie-Élise MÉ; Hu, Jennifer J JJ; Zheng, Wei W; , ; , ; , ; , ; , ; , ; , ; Mills, Ian G IG; Andreassen, Ole A OA; Dale, Anders M AM; Seibert, Tyler M TM
Publication Date: 2022-04

Variant appearance in text: rs78378222
PubMed Link: 35152271
Variant Present in the following documents:
  • 41391_2022_497_MOESM1_ESM.pdf
View BVdb publication page



Rho GTPase gene expression and breast cancer risk: a Mendelian randomization analysis.

Scientific Reports
Kazmi, Nabila N; Robinson, Tim T; Zheng, Jie J; Kar, Siddhartha S; Martin, Richard M RM; Ridley, Anne J AJ
Publication Date: 2022-01-27

Variant appearance in text: rs78378222
PubMed Link: 35087170
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_5549.pdf
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Rho GTPase gene expression and breast cancer risk: a Mendelian randomization analysis.

Scientific Reports
Kazmi, Nabila N; Robinson, Tim T; Zheng, Jie J; Kar, Siddhartha S; Martin, Richard M RM; Ridley, Anne J AJ
Publication Date: 2022-01-27

Variant appearance in text: rs78378222
PubMed Link: 35087170
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_5549.pdf
View BVdb publication page



Epidemiology of Brain and Other CNS Tumors.

Current Neurology And Neuroscience Reports
Ostrom, Quinn T QT; Francis, Stephen S SS; Barnholtz-Sloan, Jill S JS
Publication Date: 2021-11-24

Variant appearance in text: rs78378222
PubMed Link: 34817716
Variant Present in the following documents:
  • Main text
  • 11910_2021_Article_1152.pdf
View BVdb publication page



Effect of Basal Metabolic Rate on Cancer: A Mendelian Randomization Study.

Frontiers In Genetics
Ng, Jack C M JCM; Schooling, C Mary CM
Publication Date: 2021

Variant appearance in text: rs78378222
PubMed Link: 34567085
Variant Present in the following documents:
  • Main text
  • fgene-12-735541.pdf
View BVdb publication page



miR-2337 induces TGF-β1 production in granulosa cells by acting as an endogenous small activating RNA.

Cell Death Discovery
Wang, Lingfang L; Du, Xing X; Li, Qiqi Q; Wu, Wangjun W; Pan, Zengxiang Z; Li, Qifa Q
Publication Date: 2021-09-18

Variant appearance in text: rs78378222
PubMed Link: 34537818
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association Between LIN28A Gene Polymorphisms and Glioma Susceptibility in Chinese Children.

Cancer Control : Journal Of The Moffitt Cancer Center
Guo, Huiqin H; Liao, Yuxiang Y; Lin, Ao A; Lin, Huiran H; Huang, Xiaokai X; Ruan, Jichen J; Yuan, Li L; Zhuo, Zhenjian Z
Publication Date: 2021

Variant appearance in text: rs78378222
PubMed Link: 34468231
Variant Present in the following documents:
  • Main text
  • 10.1177_10732748211040009.pdf
View BVdb publication page



Spontaneous and inherited TP53 genetic alterations.

Oncogene
Levine, Arnold J AJ
Publication Date: 2021-10

Variant appearance in text: rs78378222
PubMed Link: 34389799
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spontaneous and inherited TP53 genetic alterations.

Oncogene
Levine, Arnold J AJ
Publication Date: 2021-10

Variant appearance in text: rs78378222
PubMed Link: 34389799
Variant Present in the following documents:
  • Main text
View BVdb publication page



Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics.

Cancers
Kilgour, James M JM; Jia, Justin L JL; Sarin, Kavita Y KY
Publication Date: 2021-07-31

Variant appearance in text: rs78378222
PubMed Link: 34359772
Variant Present in the following documents:
  • Main text
  • cancers-13-03870.pdf
View BVdb publication page



Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.

Human Molecular Genetics
Thompson, Andrew A; King, Katharine K; Morris, Andrew P AP; Pirmohamed, Munir M
Publication Date: 2021-10-13

Variant appearance in text: rs78378222
PubMed Link: 34104963
Variant Present in the following documents:
  • Main text
  • ddab147.pdf
View BVdb publication page



Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.

Nature Medicine
Zekavat, Seyedeh M SM; Lin, Shu-Hong SH; Bick, Alexander G AG; Liu, Aoxing A; Paruchuri, Kaavya K; Wang, Chen C; Uddin, Md Mesbah MM; Ye, Yixuan Y; Yu, Zhaolong Z; Liu, Xiaoxi X; Kamatani, Yoichiro Y; Bhattacharya, Romit R; Pirruccello, James P JP; Pampana, Akhil A; Loh, Po-Ru PR; Kohli, Puja P; McCarroll, Steven A SA; Kiryluk, Krzysztof K; Neale, Benjamin B; Ionita-Laza, Iuliana I; Engels, Eric A EA; Brown, Derek W DW; Smoller, Jordan W JW; Green, Robert R; Karlson, Elizabeth W EW; Lebo, Matthew M; Ellinor, Patrick T PT; Weiss, Scott T ST; Daly, Mark J MJ; , ; , ; Terao, Chikashi C; Zhao, Hongyu H; Ebert, Benjamin L BL; Reilly, Muredach P MP; Ganna, Andrea A; Machiela, Mitchell J MJ; Genovese, Giulio G; Natarajan, Pradeep P
Publication Date: 2021-06

Variant appearance in text: rs78378222
PubMed Link: 34099924
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common genetic polymorphisms contribute to the association between chronic lymphocytic leukaemia and non-melanoma skin cancer.

International Journal Of Epidemiology
Besson, Caroline C; Moore, Amy A; Wu, Wenting W; Vajdic, Claire M CM; de Sanjose, Silvia S; Camp, Nicola J NJ; Smedby, Karin E KE; Shanafelt, Tait D TD; Morton, Lindsay M LM; Brewer, Jerry D JD; Zablotska, Lydia L; Engels, Eric A EA; Cerhan, James R JR; Slager, Susan L SL; Han, Jiali J; Berndt, Sonja I SI; ,
Publication Date: 2021-08-30

Variant appearance in text: rs78378222
PubMed Link: 33748835
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders.

Human Molecular Genetics
Beaumont, Robin N RN; Mayne, Isabelle K IK; Freathy, Rachel M RM; Wright, Caroline F CF
Publication Date: 2021-05-31

Variant appearance in text: rs78378222
PubMed Link: 33682876
Variant Present in the following documents:
  • Main text
  • ddab060.pdf
View BVdb publication page



Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: TP53: 782+5747A>C; rs78378222
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx, sheet 21
View BVdb publication page



Clinicopathological and Prognostic Roles of STAT3 and Its Phosphorylation in Glioma.

Disease Markers
Liang, Bo B; Li, Shuang-Yang SY; Gong, Hui-Zhi HZ; Wang, Ling-Xue LX; Lu, Jia J; Zhao, Yu-Xiu YX; Gu, Ning N
Publication Date: 2020

Variant appearance in text: rs78378222
PubMed Link: 33299498
Variant Present in the following documents:
  • Main text
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: rs78378222
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_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: rs78378222
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



The rs78378222 prevalence and the copy loss of the protective allele A in the tumor tissue of diffuse large B-cell lymphoma.

Peerj
Voropaeva, Elena N EN; Orlov, Yuriy L YL; Pospelova, Tatiana I TI; Gurageva, Anna A AA; Voevoda, Mikhail I MI; Maksimov, Vladimir N VN; Seregina, Olga B OB; Churkina, Maria I MI
Publication Date: 2020

Variant appearance in text: rs78378222
PubMed Link: 33240649
Variant Present in the following documents:
  • Main text
  • peerj-08-10335.pdf
View BVdb publication page



Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal Of Medical Genetics
Raad, Sabine S; Rolain, Marion M; Coutant, Sophie S; Derambure, Céline C; Lanos, Raphael R; Charbonnier, Françoise F; Bou, Jacqueline J; Bouvignies, Emilie E; Lienard, Gwendoline G; Vasseur, Stéphanie S; Farrell, Michael M; Ingster, Olivier O; Baert Desurmont, Stéphanie S; Kasper, Edwige E; Bougeard, Gaëlle G; Frébourg, Thierry T; Tournier, Isabelle I
Publication Date: 2021-12

Variant appearance in text: rs78378222
PubMed Link: 33051313
Variant Present in the following documents:
  • Main text
View BVdb publication page



Blood functional assay for rapid clinical interpretation of germline TP53 variants.

Journal Of Medical Genetics
Raad, Sabine S; Rolain, Marion M; Coutant, Sophie S; Derambure, Céline C; Lanos, Raphael R; Charbonnier, Françoise F; Bou, Jacqueline J; Bouvignies, Emilie E; Lienard, Gwendoline G; Vasseur, Stéphanie S; Farrell, Michael M; Ingster, Olivier O; Baert Desurmont, Stéphanie S; Kasper, Edwige E; Bougeard, Gaëlle G; Frébourg, Thierry T; Tournier, Isabelle I
Publication Date: 2021-12

Variant appearance in text: rs78378222
PubMed Link: 33051313
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.

Nature Communications
Rashkin, Sara R SR; Graff, Rebecca E RE; Kachuri, Linda L; Thai, Khanh K KK; Alexeeff, Stacey E SE; Blatchins, Maruta A MA; Cavazos, Taylor B TB; Corley, Douglas A DA; Emami, Nima C NC; Hoffman, Joshua D JD; Jorgenson, Eric E; Kushi, Lawrence H LH; Meyers, Travis J TJ; Van Den Eeden, Stephen K SK; Ziv, Elad E; Habel, Laurel A LA; Hoffmann, Thomas J TJ; Sakoda, Lori C LC; Witte, John S JS
Publication Date: 2020-09-04

Variant appearance in text: rs78378222
PubMed Link: 32887889
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_18246.pdf
View BVdb publication page



10th Anniversary of the European Association for Predictive, Preventive and Personalised (3P) Medicine - EPMA World Congress Supplement 2020.

The Epma Journal
Golubnitschaja, Olga O; Topolcan, Ondrej O; Kucera, Radek R; Costigliola, Vincenzo V; ,
Publication Date: 2020-08

Variant appearance in text: rs78378222
PubMed Link: 32837665
Variant Present in the following documents:
  • Main text
View BVdb publication page



10th Anniversary of the European Association for Predictive, Preventive and Personalised (3P) Medicine - EPMA World Congress Supplement 2020.

The Epma Journal
Golubnitschaja, Olga O; Topolcan, Ondrej O; Kucera, Radek R; Costigliola, Vincenzo V; ,
Publication Date: 2020-08-19

Variant appearance in text: rs78378222
PubMed Link: 32837665
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of Established Blood Pressure Loci With 10-Year Change in Blood Pressure and Their Ability to Predict Incident Hypertension.

Journal Of The American Heart Association
Poveda, Alaitz A; Atabaki-Pasdar, Naeimeh N; Ahmad, Shafqat S; Hallmans, Göran G; Renström, Frida F; Franks, Paul W PW
Publication Date: 2020-08-18

Variant appearance in text: rs78378222
PubMed Link: 32805198
Variant Present in the following documents:
  • Main text
  • JAH3-9-e014513.pdf
View BVdb publication page



Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits.

Journal Of Medical Genetics
Di Giovannantonio, Matteo M; Harris, Benjamin Hl BH; Zhang, Ping P; Kitchen-Smith, Isaac I; Xiong, Lingyun L; Sahgal, Natasha N; Stracquadanio, Giovanni G; Wallace, Marsha M; Blagden, Sarah S; Lord, Simon S; Harris, David D; Harris, Adrian H L AHL; Buffa, Francesca M FM; Bond, Gareth L GL
Publication Date: 2021-06

Variant appearance in text: rs78378222
PubMed Link: 32591342
Variant Present in the following documents:
  • Main text
  • jmedgenet-2019-106799.pdf
View BVdb publication page



Emerging Roles of RNA 3'-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders.

Biomolecules
Nourse, Jamie J; Spada, Stefano S; Danckwardt, Sven S
Publication Date: 2020-06-17

Variant appearance in text: rs78378222
PubMed Link: 32560344
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Nature Genetics
Zhang, Haoyu H; Ahearn, Thomas U TU; Lecarpentier, Julie J; Barnes, Daniel D; Beesley, Jonathan J; Qi, Guanghao G; Jiang, Xia X; O'Mara, Tracy A TA; Zhao, Ni N; Bolla, Manjeet K MK; Dunning, Alison M AM; Dennis, Joe J; Wang, Qin Q; Ful, Zumuruda Abu ZA; Aittomäki, Kristiina K; Andrulis, Irene L IL; Anton-Culver, Hoda H; Arndt, Volker V; Aronson, Kristan J KJ; Arun, Banu K BK; Auer, Paul L PL; Azzollini, Jacopo J; Barrowdale, Daniel D; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Benitez, Javier J; Bermisheva, Marina M; Bialkowska, Katarzyna K; Blanco, Ana A; Blomqvist, Carl C; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bonanni, Bernardo B; Bondavalli, Davide D; Borg, Ake A; Brauch, Hiltrud H; Brenner, Hermann H; Briceno, Ignacio I; Broeks, Annegien A; Brucker, Sara Y SY; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Byers, Helen H; Caldés, Trinidad T; Caligo, Maria A MA; Calvello, Mariarosaria M; Campa, Daniele D; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Christiaens, Melissa M; Christiansen, Hans H; Chung, Wendy K WK; Claes, Kathleen B M KBM; Clarke, Christine L CL; Cornelissen, Sten S; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Daly, Mary B MB; Devilee, Peter P; Diez, Orland O; Domchek, Susan M SM; Dörk, Thilo T; Dwek, Miriam M; Eccles, Diana M DM; Ekici, Arif B AB; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Foretova, Lenka L; Fostira, Florentia F; Friedman, Eitan E; Frost, Debra D; Gago-Dominguez, Manuela M; Gapstur, Susan M SM; Garber, Judy J; García-Sáenz, José A JA; Gaudet, Mia M MM; Gayther, Simon A SA; Giles, Graham G GG; Godwin, Andrew K AK; Goldberg, Mark S MS; Goldgar, David E DE; González-Neira, Anna A; Greene, Mark H MH; Gronwald, Jacek J; Guénel, Pascal P; Häberle, Lothar L; Hahnen, Eric E; Haiman, Christopher A CA; Hake, Christopher R CR; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Heemskerk-Gerritsen, Bernadette A M BAM; Hillemanns, Peter P; Hogervorst, Frans B L FBL; Holleczek, Bernd B; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hoover, Robert N RN; Hopper, John L JL; Howell, Anthony A; Huebner, Hanna H; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Jager, Agnes A; Jakimovska, Milena M; Jakubowska, Anna A; James, Paul P; Janavicius, Ramunas R; Janni, Wolfgang W; John, Esther M EM; Jones, Michael E ME; Jung, Audrey A; Kaaks, Rudolf R; Kapoor, Pooja Middha PM; Karlan, Beth Y BY; Keeman, Renske R; Khan, Sofia S; Khusnutdinova, Elza E; Kitahara, Cari M CM; Ko, Yon-Dschun YD; Konstantopoulou, Irene I; Koppert, Linetta B LB; Koutros, Stella S; Kristensen, Vessela N VN; Laenkholm, Anne-Vibeke AV; Lambrechts, Diether D; Larsson, Susanna C SC; Laurent-Puig, Pierre P; Lazaro, Conxi C; Lazarova, Emilija E; Lejbkowicz, Flavio F; Leslie, Goska G; Lesueur, Fabienne F; Lindblom, Annika A; Lissowska, Jolanta J; Lo, Wing-Yee WY; Loud, Jennifer T JT; Lubinski, Jan J; Lukomska, Alicja A; MacInnis, Robert J RJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martinez, Maria Elena ME; Matricardi, Laura L; McGuffog, Lesley L; McLean, Catriona C; Mebirouk, Noura N; Meindl, Alfons A; Menon, Usha U; Miller, Austin A; Mingazheva, Elvira E; Montagna, Marco M; Mulligan, Anna Marie AM; Mulot, Claire C; Muranen, Taru A TA; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Newman, William G WG; Nielsen, Finn C FC; Nikitina-Zake, Liene L; Nodora, Jesse J; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olsson, Håkan H; Orr, Nick N; Papi, Laura L; Papp, Janos J; Park-Simon, Tjoung-Won TW; Parsons, Michael T MT; Peissel, Bernard B; Peixoto, Ana A; Peshkin, Beth B; Peterlongo, Paolo P; Peto, Julian J; Phillips, Kelly-Anne KA; Piedmonte, Marion M; Plaseska-Karanfilska, Dijana D; Prajzendanc, Karolina K; Prentice, Ross R; Prokofyeva, Darya D; Rack, Brigitte B; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Rashid, Muhammad U MU; Rennert, Gad G; Rennert, Hedy S HS; Risch, Harvey A HA; Romero, Atocha A; Rookus, Matti A MA; Rübner, Matthias M; Rüdiger, Thomas T; Saloustros, Emmanouil E; Sampson, Sarah S; Sandler, Dale P DP; Sawyer, Elinor J EJ; Scheuner, Maren T MT; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; Schöttker, Ben B; Schürmann, Peter P; Senter, Leigha L; Sharma, Priyanka P; Sherman, Mark E ME; Shu, Xiao-Ou XO; Singer, Christian F CF; Smichkoska, Snezhana S; Soucy, Penny P; Southey, Melissa C MC; Spinelli, John J JJ; Stone, Jennifer J; Stoppa-Lyonnet, Dominique D; , ; , ; Swerdlow, Anthony J AJ; Szabo, Csilla I CI; Tamimi, Rulla M RM; Tapper, William J WJ; Taylor, Jack A JA; Teixeira, Manuel R MR; Terry, MaryBeth M; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Tollenaar, Rob A E M RAEM; Tomlinson, Ian I; Torres, Diana D; Troester, Melissa A MA; Truong, Thérèse T; Tung, Nadine N; Untch, Michael M; Vachon, Celine M CM; van den Ouweland, Ans M W AMW; van der Kolk, Lizet E LE; van Veen, Elke M EM; vanRensburg, Elizabeth J EJ; Vega, Ana A; Wappenschmidt, Barbara B; Weinberg, Clarice R CR; Weitzel, Jeffrey N JN; Wildiers, Hans H; Winqvist, Robert R; Wolk, Alicja A; Yang, Xiaohong R XR; Yannoukakos, Drakoulis D; Zheng, Wei W; Zorn, Kristin K KK; Milne, Roger L RL; Kraft, Peter P; Simard, Jacques J; Pharoah, Paul D P PDP; Michailidou, Kyriaki K; Antoniou, Antonis C AC; Schmidt, Marjanka K MK; Chenevix-Trench, Georgia G; Easton, Douglas F DF; Chatterjee, Nilanjan N; García-Closas, Montserrat M
Publication Date: 2020-06

Variant appearance in text: rs78378222
PubMed Link: 32424353
Variant Present in the following documents:
  • Main text
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TP53 Arg72Pro polymorphism and neuroblastoma susceptibility in eastern Chinese children: a three-center case-control study.

Bioscience Reports
Fang, Yuan Y; Wu, Xuemei X; Li, Lin L; Zhu, Jinhong J; Wu, Haiyan H; Zhou, Haixia H; He, Jing J; Wang, Yizhen Y
Publication Date: 2020-05-29

Variant appearance in text: rs78378222
PubMed Link: 32406493
Variant Present in the following documents:
  • Main text
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Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Nature Genetics
Landi, Maria Teresa MT; Bishop, D Timothy DT; MacGregor, Stuart S; Machiela, Mitchell J MJ; Stratigos, Alexander J AJ; Ghiorzo, Paola P; Brossard, Myriam M; Calista, Donato D; Choi, Jiyeon J; Fargnoli, Maria Concetta MC; Zhang, Tongwu T; Rodolfo, Monica M; Trower, Adam J AJ; Menin, Chiara C; Martinez, Jacobo J; Hadjisavvas, Andreas A; Song, Lei L; Stefanaki, Irene I; Scolyer, Richard R; Yang, Rose R; Goldstein, Alisa M AM; Potrony, Miriam M; Kypreou, Katerina P KP; Pastorino, Lorenza L; Queirolo, Paola P; Pellegrini, Cristina C; Cattaneo, Laura L; Zawistowski, Matthew M; Gimenez-Xavier, Pol P; Rodriguez, Arantxa A; Elefanti, Lisa L; Manoukian, Siranoush S; Rivoltini, Licia L; Smith, Blair H BH; Loizidou, Maria A MA; Del Regno, Laura L; Massi, Daniela D; Mandala, Mario M; Khosrotehrani, Kiarash K; Akslen, Lars A LA; Amos, Christopher I CI; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Soyer, H Peter HP; Bataille, Veronique V; Dalmasso, Bruna B; Bowdler, Lisa M LM; Burdon, Kathryn P KP; Chen, Wei V WV; Codd, Veryan V; Craig, Jamie E JE; Dębniak, Tadeusz T; Falchi, Mario M; Fang, Shenying S; Friedman, Eitan E; Simi, Sarah S; Galan, Pilar P; Garcia-Casado, Zaida Z; Gillanders, Elizabeth M EM; Gordon, Scott S; Green, Adele A; Gruis, Nelleke A NA; Hansson, Johan J; Harland, Mark M; Harris, Jessica J; Helsing, Per P; Henders, Anjali A; Hočevar, Marko M; Höiom, Veronica V; Hunter, David D; Ingvar, Christian C; Kumar, Rajiv R; Lang, Julie J; Lathrop, G Mark GM; Lee, Jeffrey E JE; Li, Xin X; Lubiński, Jan J; Mackie, Rona M RM; Malt, Maryrose M; Malvehy, Josep J; McAloney, Kerrie K; Mohamdi, Hamida H; Molven, Anders A; Moses, Eric K EK; Neale, Rachel E RE; Novaković, Srdjan S; Nyholt, Dale R DR; Olsson, Håkan H; Orr, Nicholas N; Fritsche, Lars G LG; Puig-Butille, Joan Anton JA; Qureshi, Abrar A AA; Radford-Smith, Graham L GL; Randerson-Moor, Juliette J; Requena, Celia C; Rowe, Casey C; Samani, Nilesh J NJ; Sanna, Marianna M; Schadendorf, Dirk D; Schulze, Hans-Joachim HJ; Simms, Lisa A LA; Smithers, Mark M; Song, Fengju F; Swerdlow, Anthony J AJ; van der Stoep, Nienke N; Kukutsch, Nicole A NA; Visconti, Alessia A; Wallace, Leanne L; Ward, Sarah V SV; Wheeler, Lawrie L; Sturm, Richard A RA; Hutchinson, Amy A; Jones, Kristine K; Malasky, Michael M; Vogt, Aurelie A; Zhou, Weiyin W; Pooley, Karen A KA; Elder, David E DE; Han, Jiali J; Hicks, Belynda B; Hayward, Nicholas K NK; Kanetsky, Peter A PA; Brummett, Chad C; Montgomery, Grant W GW; Olsen, Catherine M CM; Hayward, Caroline C; Dunning, Alison M AM; Martin, Nicholas G NG; Evangelou, Evangelos E; Mann, Graham J GJ; Long, Georgina G; Pharoah, Paul D P PDP; Easton, Douglas F DF; Barrett, Jennifer H JH; Cust, Anne E AE; Abecasis, Goncalo G; Duffy, David L DL; Whiteman, David C DC; Gogas, Helen H; De Nicolo, Arcangela A; Tucker, Margaret A MA; Newton-Bishop, Julia A JA; , ; , ; , ; , ; , ; , ; , ; , ; , ; Peris, Ketty K; Chanock, Stephen J SJ; Demenais, Florence F; Brown, Kevin M KM; Puig, Susana S; Nagore, Eduardo E; Shi, Jianxin J; Iles, Mark M MM; Law, Matthew H MH
Publication Date: 2020-05

Variant appearance in text: rs78378222
PubMed Link: 32341527
Variant Present in the following documents:
  • Main text
  • NIHMS1574209-supplement-2.xlsx, sheet 3
  • nihms-1574209.pdf
  • NIHMS1574209-supplement-2.xlsx, sheet 9
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Dissecting Molecular Features of Gliomas: Genetic Loci and Validated Biomarkers.

International Journal Of Molecular Sciences
Arcella, Antonietta A; Limanaqi, Fiona F; Ferese, Rosangela R; Biagioni, Francesca F; Oliva, Maria Antonietta MA; Storto, Marianna M; Fanelli, Mirco M; Gambardella, Stefano S; Fornai, Francesco F
Publication Date: 2020-01-20

Variant appearance in text: rs78378222
PubMed Link: 31968687
Variant Present in the following documents:
  • ijms-21-00685.pdf
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The Genetic Architecture of Gliomagenesis-Genetic Risk Variants Linked to Specific Molecular Subtypes.

Cancers
Wu, Wendy Yi-Ying WY; Johansson, Gunnar G; Wibom, Carl C; Brännström, Thomas T; Malmström, Annika A; Henriksson, Roger R; Golovleva, Irina I; Bondy, Melissa L ML; Andersson, Ulrika U; Dahlin, Anna M AM; Melin, Beatrice B
Publication Date: 2019-12-12

Variant appearance in text: rs78378222
PubMed Link: 31842352
Variant Present in the following documents:
  • Main text
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Tissue-specific microRNA expression alters cancer susceptibility conferred by a TP53 noncoding variant.

Nature Communications
Deng, Qipan Q; Hu, Hui H; Yu, Xinfang X; Liu, Shuanglin S; Wang, Lei L; Chen, Weiqun W; Zhang, Chi C; Zeng, Zhaoyang Z; Cao, Ya Y; Xu-Monette, Zijun Y ZY; Li, Ling L; Zhang, Mingzhi M; Rosenfeld, Steven S; Bao, Shideng S; Hsi, Eric E; Young, Ken H KH; Lu, Zhongxin Z; Li, Yong Y
Publication Date: 2019-11-07

Variant appearance in text: rs78378222
PubMed Link: 31699989
Variant Present in the following documents:
  • Main text
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Sex-Stratified Polygenic Risk Score Identifies Individuals at Increased Risk of Basal Cell Carcinoma.

The Journal Of Investigative Dermatology
Roberts, Michelle R MR; Sordillo, Joanne E JE; Kraft, Peter P; Asgari, Maryam M MM
Publication Date: 2020-05

Variant appearance in text: rs78378222
PubMed Link: 31682843
Variant Present in the following documents:
  • Main text
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Lack of association between modifiable exposures and glioma risk: a Mendelian randomization analysis.

Neuro-Oncology
Saunders, Charlie N CN; Cornish, Alex J AJ; Kinnersley, Ben B; Law, Philip J PJ; Claus, Elizabeth B EB; Il'yasova, Dora D; Schildkraut, Joellen J; Barnholtz-Sloan, Jill S JS; Olson, Sara H SH; Bernstein, Jonine L JL; Lai, Rose K RK; Chanock, Stephen S; Rajaraman, Preetha P; Johansen, Christoffer C; Jenkins, Robert B RB; Melin, Beatrice S BS; Wrensch, Margaret R MR; Sanson, Marc M; Bondy, Melissa L ML; Houlston, Richard S RS
Publication Date: 2020-02-20

Variant appearance in text: rs78378222
PubMed Link: 31665421
Variant Present in the following documents:
  • Main text
  • noz209.pdf
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Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

Nature Communications
Gallagher, C S CS; Mäkinen, N N; Harris, H R HR; Rahmioglu, N N; Uimari, O O; Cook, J P JP; Shigesi, N N; Ferreira, T T; Velez-Edwards, D R DR; Edwards, T L TL; Mortlock, S S; Ruhioglu, Z Z; Day, F F; Becker, C M CM; Karhunen, V V; Martikainen, H H; Järvelin, M-R MR; Cantor, R M RM; Ridker, P M PM; Terry, K L KL; Buring, J E JE; Gordon, S D SD; Medland, S E SE; Montgomery, G W GW; Nyholt, D R DR; Hinds, D A DA; Tung, J Y JY; , ; Perry, J R B JRB; Lind, P A PA; Painter, J N JN; Martin, N G NG; Morris, A P AP; Chasman, D I DI; Missmer, S A SA; Zondervan, K T KT; Morton, C C CC
Publication Date: 2019-10-24

Variant appearance in text: rs78378222
PubMed Link: 31649266
Variant Present in the following documents:
  • Main text
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MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine
Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM
Publication Date: 2019-12

Variant appearance in text: rs78378222
PubMed Link: 31637880
Variant Present in the following documents:
  • Main text
  • CAM4-8-7477.pdf
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Association of miR-34b/c rs4938723 and TP53 Arg72Pro Polymorphisms with Neuroblastoma Susceptibility: Evidence from Seven Centers.

Translational Oncology
Li, Le L; Zhu, Jinhong J; Lu, Tongyi T; Liu, Wei W; Tang, Jue J; Zhang, Jiao J; Wang, Yizhen Y; Li, Yong Y; Li, Suhong S; Zhou, Haixia H; Xia, Huimin H; He, Jing J; Cheng, Jiwen J
Publication Date: 2019-10

Variant appearance in text: rs78378222
PubMed Link: 31325764
Variant Present in the following documents:
  • Main text
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Risk factors for childhood and adult primary brain tumors.

Neuro-Oncology
Ostrom, Quinn T QT; Adel Fahmideh, Maral M; Cote, David J DJ; Muskens, Ivo S IS; Schraw, Jeremy M JM; Scheurer, Michael E ME; Bondy, Melissa L ML
Publication Date: 2019-11-04

Variant appearance in text: rs78378222
PubMed Link: 31301133
Variant Present in the following documents:
  • Main text
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A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.

Frontiers In Genetics
Edwards, Todd L TL; Giri, Ayush A; Hellwege, Jacklyn N JN; Hartmann, Katherine E KE; Stewart, Elizabeth A EA; Jeff, Janina M JM; Bray, Michael J MJ; Pendergrass, Sarah A SA; Torstenson, Eric S ES; Keaton, Jacob M JM; Jones, Sarah H SH; Gogoi, Radhika P RP; Kuivaniemi, Helena H; Jackson, Kathryn L KL; Kho, Abel N AN; Kullo, Iftikhar J IJ; McCarty, Catherine A CA; Im, Hae Kyung HK; Pacheco, Jennifer A JA; Pathak, Jyotishman J; Williams, Marc S MS; Tromp, Gerard G; Kenny, Eimear E EE; Peissig, Peggy L PL; Denny, Joshua C JC; Roden, Dan M DM; Velez Edwards, Digna R DR
Publication Date: 2019

Variant appearance in text: rs78378222
PubMed Link: 31249589
Variant Present in the following documents:
  • Main text
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Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

Human Molecular Genetics
Liyanage, Upekha E UE; Law, Matthew H MH; Han, Xikun X; An, Jiyuan J; Ong, Jue-Sheng JS; Gharahkhani, Puya P; Gordon, Scott S; Neale, Rachel E RE; Olsen, Catherine M CM; , ; MacGregor, Stuart S; Whiteman, David C DC
Publication Date: 2019-09-15

Variant appearance in text: rs78378222
PubMed Link: 31174203
Variant Present in the following documents:
  • Main text
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Common genetic variants in the TP53 pathway and their impact on cancer.

Journal Of Molecular Cell Biology
Barnoud, Thibaut T; Parris, Joshua L D JLD; Murphy, Maureen E ME
Publication Date: 2019-07-19

Variant appearance in text: rs78378222
PubMed Link: 31152665
Variant Present in the following documents:
  • Main text
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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: rs78378222
PubMed Link: 31114287
Variant Present in the following documents:
  • Main text
  • ceg-12-157.pdf
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