Publications:

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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: rs15869

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: rs15869

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs15869

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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BRCA2 3'-UTR Polymorphism rs15869 Alters Susceptibility to Papillary Thyroid Carcinoma via Binding hsa-mir-1178-3p.

Pharmacogenomics And Personalized Medicine

Guo, Nan N; Qu, Peng P; Li, Hao H; Liu, Liuli L; Jin, Hao H; Liu, Renqi R; Zhang, Zhen Z; Zhang, Xuan X; Li, Yingchun Y; Lu, Xiaobo X; Zhao, Yuejiao Y

Publication Date: 2021

Variant appearance in text: rs15869

PubMed Link: 33986610

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs15869

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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RP11‑284F21.9 promotes lung carcinoma proliferation and invasion via the regulation of miR‑627‑3p/CCAR1.

Oncology Reports

Li, Dan D; Wang, Li L; Feng, Jin J; Shen, Yan-Wei YW; Liu, Li-Na LN; Wang, Yuan Y

Publication Date: 2020-10

Variant appearance in text: rs15869

PubMed Link: 32945522

Variant Present in the following documents:

• or-44-04-1638.pdf

View BVdb publication page

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Genetic Variants in the 3'UTR of BRCA1 and BRCA2 Genes and their Putative Effects on the microRNA Mechanism in Hereditary Breast and Ovarian Cancer.

Diagnostics (Basel, Switzerland)

Sánchez-Chaparro, María Marisela MM; Garza-Veloz, Idalia I; Zayas-Villanueva, Omar Alejandro OA; Martinez-Fierro, Margarita L ML; Delgado-Enciso, Iván I; Gomez-Govea, Mayra Alejandra MA; Martínez-de-Villarreal, Laura Elia LE; Reséndez-Pérez, Diana D; Rodríguez-Sánchez, Iram Pablo IP

Publication Date: 2020-05-13

Variant appearance in text: rs15869

PubMed Link: 32414209

Variant Present in the following documents:

• Main text
• diagnostics-10-00298.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs15869

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs15869

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs15869

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women.

Journal Of Breast Cancer

Sirisena, Nirmala Dushyanthi ND; Adeyemo, Adebowale A; Kuruppu, Anchala Ishani AI; Samaranayake, Nilakshi N; Dissanayake, Vajira Harshadeva Weerabaddana VHW

Publication Date: 2018-06

Variant appearance in text: rs15869

PubMed Link: 29963112

Variant Present in the following documents:

• Main text
• jbc-21-165.pdf

View BVdb publication page

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Clinical and Genetic Risk Prediction of Subsequent CNS Tumors in Survivors of Childhood Cancer: A Report From the COG ALTE03N1 Study.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Wang, Xuexia X; Sun, Can-Lan CL; Hageman, Lindsey L; Smith, Kandice K; Singh, Purnima P; Desai, Sunil S; Hawkins, Douglas S DS; Hudson, Melissa M MM; Mascarenhas, Leo L; Neglia, Joseph P JP; Oeffinger, Kevin C KC; Ritchey, A Kim AK; Robison, Leslie L LL; Villaluna, Doojduen D; Landier, Wendy W; Bhatia, Smita S

Publication Date: 2017-11-10

Variant appearance in text: rs15869

PubMed Link: 28976792

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic landscape of high-grade meningiomas.

Npj Genomic Medicine

Bi, Wenya Linda WL; Greenwald, Noah F NF; Abedalthagafi, Malak M; Wala, Jeremiah J; Gibson, Will J WJ; Agarwalla, Pankaj K PK; Horowitz, Peleg P; Schumacher, Steven E SE; Esaulova, Ekaterina E; Mei, Yu Y; Chevalier, Aaron A; Ducar, Matthew M; Thorner, Aaron R AR; van Hummelen, Paul P; Stemmer-Rachamimov, Anat A; Artyomov, Maksym M; Al-Mefty, Ossama O; Dunn, Gavin P GP; Santagata, Sandro S; Dunn, Ian F IF; Beroukhim, Rameen R

Publication Date: 2017

Variant appearance in text: rs15869

PubMed Link: 28713588

Variant Present in the following documents:

• 41525_2017_14_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs15869

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Plos One

Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM

Publication Date: 2017

Variant appearance in text: rs15869

PubMed Link: 28076423

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

European Journal Of Human Genetics : Ejhg

Byers, Helen H; Wallis, Yvonne Y; van Veen, Elke M EM; Lalloo, Fiona F; Reay, Kim K; Smith, Philip P; Wallace, Andrew J AJ; Bowers, Naomi N; Newman, William G WG; Evans, D Gareth DG

Publication Date: 2016-11

Variant appearance in text: rs15869

PubMed Link: 27273131

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study.

European Journal Of Human Genetics : Ejhg

Garcia, Amandine I AI; Buisson, Monique M; Damiola, Francesca F; Tessereau, Chloé C; Barjhoux, Laure L; Verny-Pierre, Carole C; Sornin, Valérie V; Dondon, Marie-Gabrielle MG; Eon-Marchais, Séverine S; , ; Caron, Olivier O; Gautier-Villars, Marion M; Coupier, Isabelle I; Buecher, Bruno B; Vennin, Philippe P; Belotti, Muriel M; Lortholary, Alain A; Gesta, Paul P; Dugast, Catherine C; Noguès, Catherine C; Fricker, Jean-Pierre JP; Faivre, Laurence L; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Sinilnikova, Olga M OM; Mazoyer, Sylvie S

Publication Date: 2016-08

Variant appearance in text: rs15869

PubMed Link: 26785832

Variant Present in the following documents:

• Main text

View BVdb publication page

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A variant at a potentially functional microRNA-binding site in BRIP1 was associated with risk of squamous cell carcinoma of the head and neck.

Tumour Biology : The Journal Of The International Society For Oncodevelopmental Biology And Medicine

Liu, Hongliang H; Gao, Fengqin F; Dahlstrom, Kristina R KR; Li, Guojun G; Sturgis, Erich M EM; Zevallos, Jose P JP; Wei, Qingyi Q; Liu, Zhensheng Z

Publication Date: 2016-06

Variant appearance in text: rs15869

PubMed Link: 26711789

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival.

The Journal Of Investigative Dermatology

Yin, Jieyun J; Liu, Hongliang H; Liu, Zhensheng Z; Wang, Li-E LE; Chen, Wei V WV; Zhu, Dakai D; Amos, Christopher I CI; Fang, Shenying S; Lee, Jeffrey E JE; Wei, Qingyi Q

Publication Date: 2015-02

Variant appearance in text: rs15869

PubMed Link: 25243787

Variant Present in the following documents:

• nihms-629129.pdf

View BVdb publication page

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Genetic polymorphisms of DNA double-strand break repair pathway genes and glioma susceptibility.

Bmc Cancer

Zhao, Peng P; Zou, Peng P; Zhao, Lin L; Yan, Wei W; Kang, Chunsheng C; Jiang, Tao T; You, Yongping Y

Publication Date: 2013-05-10

Variant appearance in text: rs15869

PubMed Link: 23663450

Variant Present in the following documents:

• Main text
• 1471-2407-13-234.pdf

View BVdb publication page

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Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.

American Journal Of Hematology

Chen, Yingtai Y; Zheng, Tongzhang T; Lan, Qing Q; Kim, Christopher C; Qin, Qin Q; Foss, Francine F; Chen, Xuezhong X; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Wang, Chengfeng C; Dai, Min M; Liu, Zhenjiang Z; Ma, Shuangge S; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2013-07

Variant appearance in text: rs15869

PubMed Link: 23619945

Variant Present in the following documents:

• Main text

View BVdb publication page

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Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)

Jiao, Jie J; Zheng, Tongzhang T; Lan, Qing Q; Chen, Yingtai Y; Deng, Qian Q; Bi, Xiaofeng X; Kim, Christopher C; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Ba, Yue Y; Xia, Zhaolin Z; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2012-11

Variant appearance in text: rs15869

PubMed Link: 22430443

Variant Present in the following documents:

• Main text

View BVdb publication page

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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.

Human Genetics

Im, Kate M KM; Kirchhoff, Tomas T; Wang, Xianshu X; Green, Todd T; Chow, Clement Y CY; Vijai, Joseph J; Korn, Joshua J; Gaudet, Mia M MM; Fredericksen, Zachary Z; Shane Pankratz, V V; Guiducci, Candace C; Crenshaw, Andrew A; McGuffog, Lesley L; Kartsonaki, Christiana C; Morrison, Jonathan J; Healey, Sue S; Sinilnikova, Olga M OM; Mai, Phuong L PL; Greene, Mark H MH; Piedmonte, Marion M; Rubinstein, Wendy S WS; , ; Hogervorst, Frans B FB; Rookus, Matti A MA; Collée, J Margriet JM; Hoogerbrugge, Nicoline N; van Asperen, Christi J CJ; Meijers-Heijboer, Hanne E J HE; Van Roozendaal, Cees E CE; Caldes, Trinidad T; Perez-Segura, Pedro P; Jakubowska, Anna A; Lubinski, Jan J; Huzarski, Tomasz T; Blecharz, Paweł P; Nevanlinna, Heli H; Aittomäki, Kristiina K; Lazaro, Conxi C; Blanco, Ignacio I; Barkardottir, Rosa B RB; Montagna, Marco M; D'Andrea, Emma E; , ; Devilee, Peter P; Olopade, Olufunmilayo I OI; Neuhausen, Susan L SL; Peissel, Bernard B; Bonanni, Bernardo B; Peterlongo, Paolo P; Singer, Christian F CF; Rennert, Gad G; Lejbkowicz, Flavio F; Andrulis, Irene L IL; Glendon, Gord G; Ozcelik, Hilmi H; , ; Toland, Amanda Ewart AE; Caligo, Maria Adelaide MA; , ; Beattie, Mary S MS; Chan, Salina S; , ; Domchek, Susan M SM; Nathanson, Katherine L KL; Rebbeck, Timothy R TR; Phelan, Catherine C; Narod, Steven S; John, Esther M EM; Hopper, John L JL; Buys, Saundra S SS; Daly, Mary B MB; Southey, Melissa C MC; Terry, Mary-Beth MB; Tung, Nadine N; Hansen, Thomas V O TV; Osorio, Ana A; Benitez, Javier J; Durán, Mercedes M; Weitzel, Jeffrey N JN; Garber, Judy J; Hamann, Ute U; , ; Peock, Susan S; Cook, Margaret M; Oliver, Clare T CT; Frost, Debra D; Platte, Radka R; Evans, D Gareth DG; Eeles, Ros R; Izatt, Louise L; Paterson, Joan J; Brewer, Carole C; Hodgson, Shirley S; Morrison, Patrick J PJ; Porteous, Mary M; Walker, Lisa L; Rogers, Mark T MT; Side, Lucy E LE; Godwin, Andrew K AK; Schmutzler, Rita K RK; Wappenschmidt, Barbara B; Laitman, Yael Y; Meindl, Alfons A; Deissler, Helmut H; Varon-Mateeva, Raymonda R; Preisler-Adams, Sabine S; Kast, Karin K; Venat-Bouvet, Laurence L; Stoppa-Lyonnet, Dominique D; Chenevix-Trench, Georgia G; Easton, Douglas F DF; Klein, Robert J RJ; Daly, Mark J MJ; Friedman, Eitan E; Dean, Michael M; Clark, Andrew G AG; Altshuler, David M DM; Antoniou, Antonis C AC; Couch, Fergus J FJ; Offit, Kenneth K; Gold, Bert B

Publication Date: 2011-11

Variant appearance in text: rs15869

PubMed Link: 21597964

Variant Present in the following documents:

• Main text

View BVdb publication page

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Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.

Breast Cancer Research And Treatment

Figueiredo, Jane C JC; Brooks, Jennifer D JD; Conti, David V DV; Poynter, Jenny N JN; Teraoka, Sharon N SN; Malone, Kathleen E KE; Bernstein, Leslie L; Lee, Won D WD; Duggan, David J DJ; Siniard, Ashley A; Concannon, Patrick P; Capanu, Marinela M; Lynch, Charles F CF; Olsen, Jørgen H JH; Haile, Robert W RW; Bernstein, Jonine L JL

Publication Date: 2011-06

Variant appearance in text: rs15869

PubMed Link: 21161372

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study.

Cancer Causes & Control : Ccc

Agalliu, Ilir I; Kwon, Erika M EM; Salinas, Claudia A CA; Koopmeiners, Joseph S JS; Ostrander, Elaine A EA; Stanford, Janet L JL

Publication Date: 2010-02

Variant appearance in text: rs15869

PubMed Link: 19902366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

British Journal Of Cancer

Kweekel, D M DM; Antonini, N F NF; Nortier, J W R JW; Punt, C J A CJ; Gelderblom, H H; Guchelaar, H-J HJ

Publication Date: 2009-07-21

Variant appearance in text: rs15869

PubMed Link: 19536092

Variant Present in the following documents:

• Main text

View BVdb publication page

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Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

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

Sehl, Mary E ME; Langer, Lucy R LR; Papp, Jeanette C JC; Kwan, Lorna L; Seldon, Joyce L JL; Arellano, Geovanni G; Reiss, Jean J; Reed, Elaine F EF; Dandekar, Sugandha S; Korin, Yael Y; Sinsheimer, Janet S JS; Zhang, Zuo-Feng ZF; Ganz, Patricia A PA

Publication Date: 2009-03-15

Variant appearance in text: rs15869

PubMed Link: 19276285

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.

Leukemia

Wang, S S SS; Maurer, M J MJ; Morton, L M LM; Habermann, T M TM; Davis, S S; Cozen, W W; Lynch, C F CF; Severson, R K RK; Rothman, N N; Chanock, S J SJ; Hartge, P P; Cerhan, J R JR

Publication Date: 2009-03

Variant appearance in text: rs15869

PubMed Link: 18830263

Variant Present in the following documents:

• Main text
• nihms278004.pdf

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs15869

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

Blood

Hill, Deirdre A DA; Wang, Sophia S SS; Cerhan, James R JR; Davis, Scott S; Cozen, Wendy W; Severson, Richard K RK; Hartge, Patricia P; Wacholder, Sholom S; Yeager, Meredith M; Chanock, Stephen J SJ; Rothman, Nathaniel N

Publication Date: 2006-11-01

Variant appearance in text: rs15869

PubMed Link: 16857995

Variant Present in the following documents:

• Main text

View BVdb publication page

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