BARD1 c.158+1590C>T

Variant ID: 2-215672546-G-A

NM_000465.2(BARD1):c.158+1590C>T

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs6435862
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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BARD1 mystery: tumor suppressors are cancer susceptibility genes.

Bmc Cancer
Hawsawi, Yousef M YM; Shams, Anwar A; Theyab, Abdulrahman A; Abdali, Wed A WA; Hussien, Nahed A NA; Alatwi, Hanan E HE; Alzahrani, Othman R OR; Oyouni, Atif Abdulwahab A AAA; Babalghith, Ahmad O AO; Alreshidi, Mousa M
Publication Date: 2022-06-01

Variant appearance in text: rs6435862
PubMed Link: 35650591
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9567.pdf
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Expression of BARD1 β Isoform in Selected Pediatric Tumors.

Genes
Jasiak, Anna A; Krawczyńska, Natalia N; Iliszko, Mariola M; Czarnota, Katarzyna K; Buczkowski, Kamil K; Stefanowicz, Joanna J; Adamkiewicz-Drożyńska, Elżbieta E; Cichosz, Grzegorz G; Iżycka-Świeszewska, Ewa E
Publication Date: 2021-01-26

Variant appearance in text: rs6435862
PubMed Link: 33530592
Variant Present in the following documents:
  • Main text
  • genes-12-00168.pdf
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Genetic variation associated with childhood and adult stature and risk of MYCN-amplified neuroblastoma.

Cancer Medicine
Semmes, Eleanor C EC; Shen, Erica E; Cohen, Jennifer L JL; Zhang, Chenan C; Wei, Qingyi Q; Hurst, Jillian H JH; Walsh, Kyle M KM
Publication Date: 2020-11

Variant appearance in text: rs6435862
PubMed Link: 32945147
Variant Present in the following documents:
  • Main text
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The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.

Genes
Watters, Andrea K AK; Seltzer, Emily S ES; MacKenzie, Danny D; Young, Melody M; Muratori, Jonathan J; Hussein, Rama R; Sodoma, Andrej M AM; To, Julie J; Singh, Manrose M; Zhang, Dong D
Publication Date: 2020-07-21

Variant appearance in text: rs6435862
PubMed Link: 32708251
Variant Present in the following documents:
  • Main text
  • genes-11-00829.pdf
  • genes-11-00829-s001.pdf
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Functional Polymorphisms in BARD1 Association with Neuroblastoma in a regional Han Chinese Population.

Journal Of Cancer
Shi, Jin J; Yu, Yongbo Y; Jin, Yaqiong Y; Lu, Jie J; Zhang, Jie J; Wang, Huanmin H; Han, Wei W; Chu, Ping P; Tai, Jun J; Chen, Feng F; Ren, Huimin H; Guo, Yongli Y; Ni, Xin X
Publication Date: 2019

Variant appearance in text: rs6435862
PubMed Link: 31258718
Variant Present in the following documents:
  • Main text
  • jcav10p2153.pdf
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Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Bmc Medical Genomics
,
Publication Date: 2018-11-27

Variant appearance in text: rs6435862
PubMed Link: 30482208
Variant Present in the following documents:
  • 12920_2018_423_MOESM1_ESM.pdf
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Genetic Predisposition to Neuroblastoma.

Children (Basel, Switzerland)
Barr, Erin K EK; Applebaum, Mark A MA
Publication Date: 2018-08-31

Variant appearance in text: rs6435862
PubMed Link: 30200332
Variant Present in the following documents:
  • Main text
  • children-05-00119.pdf
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Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor.

International Journal Of Cancer
Cimmino, Flora F; Avitabile, Marianna M; Diskin, Sharon J SJ; Vaksman, Zalman Z; Pignataro, Piero P; Formicola, Daniela D; Cardinale, Antonella A; Testori, Alessandro A; Koster, Jan J; de Torres, Carmen C; Devoto, Marcella M; Maris, John M JM; Iolascon, Achille A; Capasso, Mario M
Publication Date: 2018-12-01

Variant appearance in text: rs6435862
PubMed Link: 30132831
Variant Present in the following documents:
  • Main text
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Genetic susceptibility to neuroblastoma: current knowledge and future directions.

Cell And Tissue Research
Ritenour, Laura E LE; Randall, Michael P MP; Bosse, Kristopher R KR; Diskin, Sharon J SJ
Publication Date: 2018-05

Variant appearance in text: rs6435862
PubMed Link: 29589100
Variant Present in the following documents:
  • Main text
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Dualistic Role of BARD1 in Cancer.

Genes
Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M
Publication Date: 2017-12-08

Variant appearance in text: rs6435862
PubMed Link: 29292755
Variant Present in the following documents:
  • Main text
  • genes-08-00375.pdf
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Genetic Variations of GWAS-Identified Genes and Neuroblastoma Susceptibility: a Replication Study in Southern Chinese Children.

Translational Oncology
He, Jing J; Zou, Yan Y; Wang, Tongmin T; Zhang, Ruizhong R; Yang, Tianyou T; Zhu, Jinhong J; Wang, Fenghua F; Xia, Huimin H
Publication Date: 2017-12

Variant appearance in text: rs6435862
PubMed Link: 29024823
Variant Present in the following documents:
  • Main text
  • main.pdf
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Genetic susceptibility to neuroblastoma.

Current Opinion In Genetics & Development
Tolbert, Vanessa P VP; Coggins, Grace E GE; Maris, John M JM
Publication Date: 2017-02

Variant appearance in text: rs6435862
PubMed Link: 28458126
Variant Present in the following documents:
  • Main text
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BARD1 Gene Polymorphisms Confer Nephroblastoma Susceptibility.

Ebiomedicine
Fu, Wen W; Zhu, Jinhong J; Xiong, Si-Wei SW; Jia, Wei W; Zhao, Zhang Z; Zhu, Shi-Bo SB; Hu, Jin-Hua JH; Wang, Feng-Hua FH; Xia, Huimin H; He, Jing J; Liu, Guo-Chang GC
Publication Date: 2017-02

Variant appearance in text: rs6435862
PubMed Link: 28161399
Variant Present in the following documents:
  • Main text
  • main.pdf
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The Association between GWAS-identified BARD1 Gene SNPs and Neuroblastoma Susceptibility in a Southern Chinese Population.

International Journal Of Medical Sciences
Zhang, Ruizhong R; Zou, Yan Y; Zhu, Jinhong J; Zeng, Xinhao X; Yang, Tianyou T; Wang, Fenghua F; He, Jing J; Xia, Huimin H
Publication Date: 2016

Variant appearance in text: rs6435862
PubMed Link: 26941572
Variant Present in the following documents:
  • Main text
  • ijmsv13p0133.pdf
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Advances in the translational genomics of neuroblastoma: From improving risk stratification and revealing novel biology to identifying actionable genomic alterations.

Cancer
Bosse, Kristopher R KR; Maris, John M JM
Publication Date: 2016-01-01

Variant appearance in text: rs6435862
PubMed Link: 26539795
Variant Present in the following documents:
  • Main text
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Candidate Gene Association Analysis of Neuroblastoma in Chinese Children Strengthens the Role of LMO1.

Plos One
Lu, Jie J; Chu, Ping P; Wang, Huanmin H; Jin, Yaqiong Y; Han, Shujing S; Han, Wei W; Tai, Jun J; Guo, Yongli Y; Ni, Xin X
Publication Date: 2015

Variant appearance in text: rs6435862
PubMed Link: 26030754
Variant Present in the following documents:
  • Main text
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CASP8 SNP D302H (rs1045485) is associated with worse survival in MYCN-amplified neuroblastoma patients.

Plos One
Rihani, Ali A; De Wilde, Bram B; Zeka, Fjoralba F; Laureys, Geneviève G; Francotte, Nadine N; Tonini, Gian Paolo GP; Coco, Simona S; Versteeg, Rogier R; Noguera, Rosa R; Schulte, Johannes H JH; Eggert, Angelika A; Stallings, Raymond L RL; Speleman, Frank F; Vandesompele, Jo J; Van Maerken, Tom T
Publication Date: 2014

Variant appearance in text: rs6435862
PubMed Link: 25502557
Variant Present in the following documents:
  • Main text
  • pone.0114696.pdf
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Genetic and nongenetic risk factors for childhood cancer.

Pediatric Clinics Of North America
Spector, Logan G LG; Pankratz, Nathan N; Marcotte, Erin L EL
Publication Date: 2015-02

Variant appearance in text: rs6435862
PubMed Link: 25435109
Variant Present in the following documents:
  • Main text
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Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival.

Journal Of The National Cancer Institute
Gamazon, Eric R ER; Pinto, Navin N; Konkashbaev, Anuar A; Im, Hae Kyung HK; Diskin, Sharon J SJ; London, Wendy B WB; Maris, John M JM; Dolan, M Eileen ME; Cox, Nancy J NJ; Cohn, Susan L SL
Publication Date: 2013-02-20

Variant appearance in text: rs6435862
PubMed Link: 23243203
Variant Present in the following documents:
  • Main text
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Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility.

Carcinogenesis
Capasso, Mario M; Diskin, Sharon J SJ; Totaro, Francesca F; Longo, Luca L; De Mariano, Marilena M; Russo, Roberta R; Cimmino, Flora F; Hakonarson, Hakon H; Tonini, Gian Paolo GP; Devoto, Marcella M; Maris, John M JM; Iolascon, Achille A
Publication Date: 2013-03

Variant appearance in text: rs6435862
PubMed Link: 23222812
Variant Present in the following documents:
  • Main text
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Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database.

Plos One
Alshatwi, Ali A AA; Hasan, Tarique N TN; Syed, Naveed A NA; Shafi, Gowhat G; Grace, B Leena BL
Publication Date: 2012

Variant appearance in text: rs6435862
PubMed Link: 23056176
Variant Present in the following documents:
  • Main text
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Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.

Nature Genetics
Diskin, Sharon J SJ; Capasso, Mario M; Schnepp, Robert W RW; Cole, Kristina A KA; Attiyeh, Edward F EF; Hou, Cuiping C; Diamond, Maura M; Carpenter, Erica L EL; Winter, Cynthia C; Lee, Hanna H; Jagannathan, Jayanti J; Latorre, Valeria V; Iolascon, Achille A; Hakonarson, Hakon H; Devoto, Marcella M; Maris, John M JM
Publication Date: 2012-10

Variant appearance in text: rs6435862
PubMed Link: 22941191
Variant Present in the following documents:
  • NIHMS396289-supplement-1.pdf
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Common variation at BARD1 results in the expression of an oncogenic isoform that influences neuroblastoma susceptibility and oncogenicity.

Cancer Research
Bosse, Kristopher R KR; Diskin, Sharon J SJ; Cole, Kristina A KA; Wood, Andrew C AC; Schnepp, Robert W RW; Norris, Geoffrey G; Nguyen, Le B le B; Jagannathan, Jayanti J; Laquaglia, Michael M; Winter, Cynthia C; Diamond, Maura M; Hou, Cuiping C; Attiyeh, Edward F EF; Mosse, Yael P YP; Pineros, Vanessa V; Dizin, Eva E; Zhang, Yongqiang Y; Asgharzadeh, Shahab S; Seeger, Robert C RC; Capasso, Mario M; Pawel, Bruce R BR; Devoto, Marcella M; Hakonarson, Hakon H; Rappaport, Eric F EF; Irminger-Finger, Irmgard I; Maris, John M JM
Publication Date: 2012-04-15

Variant appearance in text: rs6435862
PubMed Link: 22350409
Variant Present in the following documents:
  • Main text
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Replication of neuroblastoma SNP association at the BARD1 locus in African-Americans.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Latorre, Valeria V; Diskin, Sharon J SJ; Diamond, Maura A MA; Zhang, Haitao H; Hakonarson, Hakon H; Maris, John M JM; Devoto, Marcella M
Publication Date: 2012-04

Variant appearance in text: rs6435862
PubMed Link: 22328350
Variant Present in the following documents:
  • Main text
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Complex-disease networks of trait-associated single-nucleotide polymorphisms (SNPs) unveiled by information theory.

Journal Of The American Medical Informatics Association : Jamia
Li, Haiquan H; Lee, Younghee Y; Chen, James L JL; Rebman, Ellen E; Li, Jianrong J; Lussier, Yves A YA
Publication Date: 2012

Variant appearance in text: rs6435862
PubMed Link: 22278381
Variant Present in the following documents:
  • amiajnl-2011-000482.pdf
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[Recent progress in genetic variants associated with cancer and their implications in diagnostics development].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer
Cho, William C S WC
Publication Date: 2011-01

Variant appearance in text: rs6435862
PubMed Link: 21219822
Variant Present in the following documents:
  • Main text
  • zgfazz-14-1-C1.pdf
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Genome-wide association studies of cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Stadler, Zsofia K ZK; Thom, Peter P; Robson, Mark E ME; Weitzel, Jeffrey N JN; Kauff, Noah D ND; Hurley, Karen E KE; Devlin, Vincent V; Gold, Bert B; Klein, Robert J RJ; Offit, Kenneth K
Publication Date: 2010-09-20

Variant appearance in text: rs6435862
PubMed Link: 20585100
Variant Present in the following documents:
  • Main text
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A compendium of genome-wide associations for cancer: critical synopsis and reappraisal.

Journal Of The National Cancer Institute
Ioannidis, John P A JP; Castaldi, Peter P; Evangelou, Evangelos E
Publication Date: 2010-06-16

Variant appearance in text: rs6435862
PubMed Link: 20505153
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.

Nature Genetics
Capasso, Mario M; Devoto, Marcella M; Hou, Cuiping C; Asgharzadeh, Shahab S; Glessner, Joseph T JT; Attiyeh, Edward F EF; Mosse, Yael P YP; Kim, Cecilia C; Diskin, Sharon J SJ; Cole, Kristina A KA; Bosse, Kristopher K; Diamond, Maura M; Laudenslager, Marci M; Winter, Cynthia C; Bradfield, Jonathan P JP; Scott, Richard H RH; Jagannathan, Jayanti J; Garris, Maria M; McConville, Carmel C; London, Wendy B WB; Seeger, Robert C RC; Grant, Struan F A SF; Li, Hongzhe H; Rahman, Nazneen N; Rappaport, Eric E; Hakonarson, Hakon H; Maris, John M JM
Publication Date: 2009-06

Variant appearance in text: rs6435862
PubMed Link: 19412175
Variant Present in the following documents:
  • Main text
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Association between common variation in 120 candidate genes and breast cancer risk.

Plos Genetics
Pharoah, Paul D P PD; Tyrer, Jonathan J; Dunning, Alison M AM; Easton, Douglas F DF; Ponder, Bruce A J BA; ,
Publication Date: 2007-03-16

Variant appearance in text: rs6435862
PubMed Link: 17367212
Variant Present in the following documents:
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