PARP1 c.-17G>A

Variant ID: 1-226595647-C-T

NM_001618.3(PARP1):c.-17G>A

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Molecular Epidemiology in Amerindians of the Brazilian Amazon Reveals New Genetic Variants in DNA Repair Genes.

Genes
Cohen-Paes, Amanda de Nazaré AN; de Alcântara, Angélica Leite AL; Moreira, Fabiano Cordeiro FC; Fernandes, Marianne Rodrigues MR; Pantoja, Karla Beatriz Cardias Cereja KBCC; Carvalho, Darlen Cardoso de DC; Guerreiro, João Farias JF; Ribeiro-Dos-Santos, Ândrea Â; Santos, Sidney Emanuel Batista Dos SEBD; Assumpção, Paulo Pimentel de PP; Santos, Ney Pereira Carneiro Dos NPCD
Publication Date: 2022-10-15

Variant appearance in text: rs907187
PubMed Link: 36292754
Variant Present in the following documents:
  • Main text
  • genes-13-01869.pdf
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs907187
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs907187
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



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: rs907187
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Contributions of PARP-1 rs1136410 C>T polymorphism to the development of cancer.

Journal Of Cellular And Molecular Medicine
Li, Hunian H; Zha, Yongjiu Y; Du, Fang F; Liu, Jie J; Li, Xiaoquan X; Zhao, Xu X
Publication Date: 2020-12

Variant appearance in text: rs907187
PubMed Link: 33108038
Variant Present in the following documents:
View BVdb publication page



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: rs907187
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.

American Journal Of Human Genetics
Li, Chen C; Stoma, Svetlana S; Lotta, Luca A LA; Warner, Sophie S; Albrecht, Eva E; Allione, Alessandra A; Arp, Pascal P PP; Broer, Linda L; Buxton, Jessica L JL; Da Silva Couto Alves, Alexessander A; Deelen, Joris J; Fedko, Iryna O IO; Gordon, Scott D SD; Jiang, Tao T; Karlsson, Robert R; Kerrison, Nicola N; Loe, Taylor K TK; Mangino, Massimo M; Milaneschi, Yuri Y; Miraglio, Benjamin B; Pervjakova, Natalia N; Russo, Alessia A; Surakka, Ida I; van der Spek, Ashley A; Verhoeven, Josine E JE; Amin, Najaf N; Beekman, Marian M; Blakemore, Alexandra I AI; Canzian, Federico F; Hamby, Stephen E SE; Hottenga, Jouke-Jan JJ; Jones, Peter D PD; Jousilahti, Pekka P; Mägi, Reedik R; Medland, Sarah E SE; Montgomery, Grant W GW; Nyholt, Dale R DR; Perola, Markus M; Pietiläinen, Kirsi H KH; Salomaa, Veikko V; Sillanpää, Elina E; Suchiman, H Eka HE; van Heemst, Diana D; Willemsen, Gonneke G; Agudo, Antonio A; Boeing, Heiner H; Boomsma, Dorret I DI; Chirlaque, Maria-Dolores MD; Fagherazzi, Guy G; Ferrari, Pietro P; Franks, Paul P; Gieger, Christian C; Eriksson, Johan Gunnar JG; Gunter, Marc M; Hägg, Sara S; Hovatta, Iiris I; Imaz, Liher L; Kaprio, Jaakko J; Kaaks, Rudolf R; Key, Timothy T; Krogh, Vittorio V; Martin, Nicholas G NG; Melander, Olle O; Metspalu, Andres A; Moreno, Concha C; Onland-Moret, N Charlotte NC; Nilsson, Peter P; Ong, Ken K KK; Overvad, Kim K; Palli, Domenico D; Panico, Salvatore S; Pedersen, Nancy L NL; Penninx, Brenda W J H BWJH; Quirós, J Ramón JR; Jarvelin, Marjo Riitta MR; Rodríguez-Barranco, Miguel M; Scott, Robert A RA; Severi, Gianluca G; Slagboom, P Eline PE; Spector, Tim D TD; Tjonneland, Anne A; Trichopoulou, Antonia A; Tumino, Rosario R; Uitterlinden, André G AG; van der Schouw, Yvonne T YT; van Duijn, Cornelia M CM; Weiderpass, Elisabete E; Denchi, Eros Lazzerini EL; Matullo, Giuseppe G; Butterworth, Adam S AS; Danesh, John J; Samani, Nilesh J NJ; Wareham, Nicholas J NJ; Nelson, Christopher P CP; Langenberg, Claudia C; Codd, Veryan V
Publication Date: 2020-03-05

Variant appearance in text: rs907187
PubMed Link: 32109421
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
View BVdb publication page



Association of PARP1 polymorphisms with response to chemotherapy in patients with high-risk neuroblastoma.

Journal Of Cellular And Molecular Medicine
Avitabile, Marianna M; Lasorsa, Vito Alessandro VA; Cantalupo, Sueva S; Cardinale, Antonella A; Cimmino, Flora F; Montella, Annalaura A; Capasso, Dalila D; Haupt, Riccardo R; Amoroso, Loredana L; Garaventa, Alberto A; Quattrone, Alessandro A; Corrias, Maria Valeria MV; Iolascon, Achille A; Capasso, Mario M
Publication Date: 2020-04

Variant appearance in text: rs907187
PubMed Link: 32103589
Variant Present in the following documents:
  • Main text
  • JCMM-24-4072.pdf
View BVdb publication page



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: rs907187
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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: rs907187
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



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: rs907187
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



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: rs907187
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs907187
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Polymorphisms in poly (ADP-ribose) polymerase-1 (PARP1) promoter and 3' untranslated region and their association with PARP1 expression in breast cancer patients.

International Journal Of Clinical And Experimental Pathology
Zhai, Lili L; Li, Shuai S; Li, Huilan H; Zheng, Yi Y; Lang, Ronggang R; Fan, Yu Y; Gu, Feng F; Guo, Xiaojing X; Zhang, Xinmin X; Fu, Li L
Publication Date: 2015

Variant appearance in text: rs907187
PubMed Link: 26261599
Variant Present in the following documents:
  • Main text
View BVdb publication page



RACK1 is a candidate gene associated with the prognosis of patients with early stage non-small cell lung cancer.

Oncotarget
Choi, Yi-Young YY; Lee, Shin Yup SY; Lee, Won Kee WK; Jeon, Hyo-Sung HS; Lee, Eung Bae EB; Lee, Hyun Cheol HC; Choi, Jin Eun JE; Kang, Hyo-Gyoung HG; Lee, Eun Jin EJ; Bae, Eun Young EY; Yoo, Seung Soo SS; Lee, Jaehee J; Cha, Seung Ick SI; Kim, Chang Ho CH; Kim, In-San IS; Lee, Myung Hoon MH; Kim, Young Tae YT; Jheon, Sanghoon S; Park, Jae Yong JY
Publication Date: 2015-02-28

Variant appearance in text: rs907187
PubMed Link: 25686824
Variant Present in the following documents:
  • Main text
  • oncotarget-06-4451.pdf
View BVdb publication page



DNA repair gene polymorphisms and risk of chronic atrophic gastritis: a case-control study.

Bmc Cancer
Frank, Bernd B; Müller, Heiko H; Weck, Melanie Nicole MN; Klopp, Norman N; Illig, Thomas T; Raum, Elke E; Brenner, Hermann H
Publication Date: 2011-10-11

Variant appearance in text: rs907187
PubMed Link: 21989229
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analysis of PARP1 polymorphisms with Parkinson's disease.

Parkinsonism & Related Disorders
Brighina, Laura L; Riva, Chiara C; Bertola, Francesca F; Fermi, Silvia S; Saracchi, Enrico E; Piolti, Roberto R; Goldwurm, Stefano S; Pezzoli, Gianni G; Ferrarese, Carlo C
Publication Date: 2011-11

Variant appearance in text: rs907187
PubMed Link: 21767974
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.

Nucleic Acids Research
Milani, Lili L; Gupta, Manu M; Andersen, Malin M; Dhar, Sumeer S; Fryknäs, Mårten M; Isaksson, Anders A; Larsson, Rolf R; Syvänen, Ann-Christine AC
Publication Date: 2007

Variant appearance in text: rs907187
PubMed Link: 17267408
Variant Present in the following documents:
  • Main text
  • gkl1152.pdf
View BVdb publication page