RB1 c.1215+1G>A

Variant ID: 13-48947629-G-A

NM_000321.2(RB1):c.1215+1G>A

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Phase 1b trial of anti-EGFR antibody JMT101 and Osimertinib in EGFR exon 20 insertion-positive non-small-cell lung cancer.

Nature Communications
Zhao, Shen S; Zhuang, Wu W; Han, Baohui B; Song, Zhengbo Z; Guo, Wei W; Luo, Feng F; Wu, Lin L; Hu, Yi Y; Wang, Huijuan H; Dong, Xiaorong X; Jiang, Da D; Wang, Mingxia M; Miao, Liyun L; Wang, Qian Q; Zhang, Junping J; Fu, Zhenming Z; Huang, Yihua Y; Xu, Chunwei C; Hu, Longyu L; Li, Lei L; Hu, Rong R; Yang, Yang Y; Li, Mengke M; Yang, Xiugao X; Zhang, Li L; Huang, Yan Y; Fang, Wenfeng W
Publication Date: 2023-06-12

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 37308490
Variant Present in the following documents:
  • 41467_2023_39139_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Challenges and opportunities associated with the MD Anderson IMPACT2 randomized study in precision oncology.

Npj Precision Oncology
Vo, Henry Hiep HH; Fu, Siqing S; Hong, David S DS; Karp, Daniel D DD; Piha-Paul, Sarina S; Subbiah, Vivek V; Janku, Filip F; Naing, Aung A; Yap, Timothy A TA; Rodon, Jordi J; Ajani, Jaffer A JA; Cartwright, Carrie C; Johnson, Amber A; Song, I-Wen IW; Beck, Jennifer J; Kahle, Michael M; Nogueras-Gonzalez, Graciela M GM; Miller, Vincent V; Chao, Calvin C; Vining, David J DJ; Berry, Donald A DA; Meric-Bernstam, Funda F; Tsimberidou, Apostolia-Maria AM
Publication Date: 2022-10-27

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 36302890
Variant Present in the following documents:
  • 41698_2022_317_MOESM1_ESM.pdf
View BVdb publication page



Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.

Translational Vision Science & Technology
Rojanaporn, Duangnate D; Chitphuk, Sermsiri S; Iemwimangsa, Nareenart N; Chareonsirisuthigul, Takol T; Saengwimol, Duangporn D; Aroonroch, Rangsima R; Anurathathapan, Usanarat U; Hongeng, Suradej S; Kaewkhaw, Rossukon R
Publication Date: 2022-09-01

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 36173648
Variant Present in the following documents:
  • Main text
  • tvst-11-9-30.pdf
View BVdb publication page



Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology
Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M
Publication Date: 2022-10

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 35971249
Variant Present in the following documents:
  • MOL2-16-3689-s005.xlsx, sheet 1
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.

Nature Communications
Shukla, N N; Levine, M F MF; Gundem, G G; Domenico, D D; Spitzer, B B; Bouvier, N N; Arango-Ossa, J E JE; Glodzik, D D; Medina-Martínez, J S JS; Bhanot, U U; Gutiérrez-Abril, J J; Zhou, Y Y; Fiala, E E; Stockfisch, E E; Li, S S; Rodriguez-Sanchez, M I MI; O'Donohue, T T; Cobbs, C C; Roehrl, M H A MHA; Benhamida, J J; Iglesias Cardenas, F F; Ortiz, M M; Kinnaman, M M; Roberts, S S; Ladanyi, M M; Modak, S S; Farouk-Sait, S S; Slotkin, E E; Karajannis, M A MA; Dela Cruz, F F; Glade Bender, J J; Zehir, A A; Viale, A A; Walsh, M F MF; Kung, A L AL; Papaemmanuil, E E
Publication Date: 2022-05-18

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 35585047
Variant Present in the following documents:
  • 41467_2022_30233_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Growth factor independence underpins a paroxysmal, aggressive Wnt5aHigh/EphA2Low phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy.

Journal Of Experimental & Clinical Cancer Research : Cr
Trivieri, Nadia N; Visioli, Alberto A; Mencarelli, Gandino G; Cariglia, Maria Grazia MG; Marongiu, Laura L; Pracella, Riccardo R; Giani, Fabrizio F; Soriano, Amata Amy AA; Barile, Chiara C; Cajola, Laura L; Copetti, Massimiliano M; Palumbo, Orazio O; Legnani, Federico F; DiMeco, Francesco F; Gorgoglione, Leonardo L; Vescovi, Angelo L AL; Binda, Elena E
Publication Date: 2022-04-12

Variant appearance in text: RB1: 1215+1G>A; rs587776783
PubMed Link: 35414102
Variant Present in the following documents:
  • 13046_2022_2333_MOESM3_ESM.xlsx, sheet 1
  • 13046_2022_2333_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine
Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J
Publication Date: 2022-04

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 35306340
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.

Nature Communications
Liu, Jing J; Ottaviani, Daniela D; Sefta, Meriem M; Desbrousses, Céline C; Chapeaublanc, Elodie E; Aschero, Rosario R; Sirab, Nanor N; Lubieniecki, Fabiana F; Lamas, Gabriela G; Tonon, Laurie L; Dehainault, Catherine C; Hua, Clément C; Fréneaux, Paul P; Reichman, Sacha S; Karboul, Narjesse N; Biton, Anne A; Mirabal-Ortega, Liliana L; Larcher, Magalie M; Brulard, Céline C; Arrufat, Sandrine S; Nicolas, André A; Elarouci, Nabila N; Popova, Tatiana T; Némati, Fariba F; Decaudin, Didier D; Gentien, David D; Baulande, Sylvain S; Mariani, Odette O; Dufour, Florent F; Guibert, Sylvain S; Vallot, Céline C; Rouic, Livia Lumbroso-Le LL; Matet, Alexandre A; Desjardins, Laurence L; Pascual-Pasto, Guillem G; Suñol, Mariona M; Catala-Mora, Jaume J; Llano, Genoveva Correa GC; Couturier, Jérôme J; Barillot, Emmanuel E; Schaiquevich, Paula P; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Golmard, Lisa L; Houdayer, Claude C; Brisse, Hervé H; Bernard-Pierrot, Isabelle I; Letouzé, Eric E; Viari, Alain A; Saule, Simon S; Sastre-Garau, Xavier X; Doz, François F; Carcaboso, Angel M AM; Cassoux, Nathalie N; Pouponnot, Celio C; Goureau, Olivier O; Chantada, Guillermo G; de Reyniès, Aurélien A; Aerts, Isabelle I; Radvanyi, François F
Publication Date: 2021-09-22

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 34552068
Variant Present in the following documents:
  • 41467_2021_25792_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy.

Npj Precision Oncology
Wong, Elyssa Y EY; Xu, Liya L; Shen, Lishuang L; Kim, Mary E ME; Polski, Ashley A; Prabakar, Rishvanth K RK; Shah, Rachana R; Jubran, Rima R; Kim, Jonathan W JW; Biegel, Jaclyn A JA; Gai, Xiaowu X; Kuhn, Peter P; Hicks, James J; Berry, Jesse L JL
Publication Date: 2021-07-27

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 34316014
Variant Present in the following documents:
  • Main text
  • 41698_2021_Article_212.pdf
  • 41698_2021_212_MOESM1_ESM.pdf
View BVdb publication page



Retinoblastoma from human stem cell-derived retinal organoids.

Nature Communications
Norrie, Jackie L JL; Nityanandam, Anjana A; Lai, Karen K; Chen, Xiang X; Wilson, Matthew M; Stewart, Elizabeth E; Griffiths, Lyra L; Jin, Hongjian H; Wu, Gang G; Orr, Brent B; Tran, Quynh Q; Allen, Sariah S; Reilly, Colleen C; Zhou, Xin X; Zhang, Jiakun J; Newman, Kyle K; Johnson, Dianna D; Brennan, Rachel R; Dyer, Michael A MA
Publication Date: 2021-07-27

Variant appearance in text: rs587776783
PubMed Link: 34315877
Variant Present in the following documents:
  • 41467_2021_24781_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.

Molecular And Clinical Oncology
Hoang, Chinh Quoc CQ; Duong, Hong-Quan HQ; Nguyen, Nguyen Thanh NT; Nguyen, Sy Anh Hao SAH; Nguyen, Cuong C; Nguyen, Bo Duy BD; Phung, Lan Tuyet LT; Nguyen, Dung Thuy DT; Pham, Chau Thi Minh CTM; Le Doan, Trang T; Tran, Mai Hoang MH
Publication Date: 2021-09

Variant appearance in text: RB1: 1215+1G>A; rs587776783
PubMed Link: 34277001
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 3
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 4
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.

Molecular Vision
Zou, Yihua Y; Li, Jiakai J; Hua, Peiyan P; Liang, Tingyi T; Ji, Xunda X; Zhao, Peiquan P
Publication Date: 2021

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 33456302
Variant Present in the following documents:
  • Main text
  • mv-v27-1.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



DNA hypermethylation/boundary control loss identified in retinoblastomas associated with genetic and epigenetic inactivation of the RB1 gene promoter.

Epigenetics
Raizis, A M AM; Racher, H M HM; Foucal, A A; Dimaras, H H; Gallie, B L BL; George, P M PM
Publication Date: 2021-09

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 33258708
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Ebiomedicine
Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M
Publication Date: 2020-11

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 33096476
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer.

Genome Medicine
Shi, Ming-Jun MJ; Meng, Xiang-Yu XY; Fontugne, Jacqueline J; Chen, Chun-Long CL; Radvanyi, François F; Bernard-Pierrot, Isabelle I
Publication Date: 2020-09-28

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 32988402
Variant Present in the following documents:
  • 13073_2020_781_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.

The Journal Of Pathology
Lyskjaer, Iben I; Lindsay, Daniel D; Tirabosco, Roberto R; Steele, Christopher D CD; Lombard, Patrick P; Strobl, Anna-Christina AC; Rocha, Ana M AM; Davies, Christopher C; Ye, Hongtao H; Bekers, Elise E; Ingruber, Julia J; Lechner, Matt M; Amary, Fernanda F; Pillay, Nischalan N; Flanagan, Adrienne M AM
Publication Date: 2020-10

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 32666581
Variant Present in the following documents:
  • PATH-252-151-s001.xlsx, sheet 3
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma.

Frontiers In Genetics
Lan, Xiaoping X; Xu, Wuhen W; Tang, Xiaojun X; Ye, Haiyun H; Song, Xiaozhen X; Lin, Longlong L; Ren, Xiang X; Yu, Guangjun G; Zhang, Hong H; Wu, Shengnan S
Publication Date: 2020

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 32218800
Variant Present in the following documents:
  • Main text
  • fgene-11-00142.pdf
View BVdb publication page



A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

European Journal Of Cancer (Oxford, England : 1990)
George, Sally L SL; Izquierdo, Elisa E; Campbell, James J; Koutroumanidou, Eleni E; Proszek, Paula P; Jamal, Sabri S; Hughes, Deborah D; Yuan, Lina L; Marshall, Lynley V LV; Carceller, Fernando F; Chisholm, Julia C JC; Vaidya, Sucheta S; Mandeville, Henry H; Angelini, Paola P; Wasti, Ajla A; Bexelius, Tomas T; Thway, Khin K; Gatz, Susanne A SA; Clarke, Matthew M; Al-Lazikani, Bissan B; Barone, Giuseppe G; Anderson, John J; Tweddle, Deborah A DA; Gonzalez, David D; Walker, Brian A BA; Barton, Jack J; Depani, Sarita S; Eze, Jessica J; Ahmed, Saira W SW; Moreno, Lucas L; Pearson, Andrew A; Shipley, Janet J; Jones, Chris C; Hargrave, Darren D; Jacques, Thomas S TS; Hubank, Michael M; Chesler, Louis L
Publication Date: 2019-11

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 31543384
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging
Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B
Publication Date: 2019-06-29

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 31257224
Variant Present in the following documents:
  • aging-11-102047-s002.xlsx, sheet 11
  • aging-11-102047-s002.xlsx, sheet 12
  • aging-11-102047-s002.xlsx, sheet 13
View BVdb publication page



An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology
Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q
Publication Date: 2019-03

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 31106028
Variant Present in the following documents:
  • tvst-08-02-12_s02.xlsx, sheet 1
View BVdb publication page



Circulating tumor DNA analysis depicts subclonal architecture and genomic evolution of small cell lung cancer.

Nature Communications
Nong, Jingying J; Gong, Yuhua Y; Guan, Yanfang Y; Yi, Xin X; Yi, Yuting Y; Chang, Lianpeng L; Yang, Ling L; Lv, Jialin J; Guo, Zhirong Z; Jia, Hongyan H; Chu, Yuxing Y; Liu, Tao T; Chen, Ming M; Byers, Lauren L; Roarty, Emily E; Lam, Vincent K VK; Papadimitrakopoulou, Vassiliki A VA; Wistuba, Ignacio I; Heymach, John V JV; Glisson, Bonnie B; Liao, Zhongxing Z; Lee, J Jack JJ; Futreal, P Andrew PA; Zhang, Shucai S; Xia, Xuefeng X; Zhang, Jianjun J; Wang, Jinghui J
Publication Date: 2018-08-06

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 30082701
Variant Present in the following documents:
  • 41467_2018_5327_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations.

Molecular Vision
Nguyen, Ha Hai HH; Nguyen, Hoa Thi Thanh HTT; Vu, Nhung Phuong NP; Le, Quynh Thuy QT; Pham, Chau Minh CM; Huyen, Thuong Thi TT; Manh, Hung H; Pham, Hang Le Bich HLB; Nguyen, Ton Dang TD; Le, Hien Thi Thu HTT; Van Nong, Hai H
Publication Date: 2018

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 29568217
Variant Present in the following documents:
  • Main text
  • mv-v24-231.pdf
View BVdb publication page



Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.

Scientific Reports
Cho, Yangrae Y; Lee, Chul-Ho CH; Jeong, Eun-Goo EG; Kim, Min-Ho MH; Hong, Jong Hui JH; Ko, Younhee Y; Lee, Bomnun B; Yun, Gilly G; Kim, Byong Joon BJ; Jung, Jongcheol J; Jung, Jongsun J; Lee, Jin-Sung JS
Publication Date: 2017-08-29

Variant appearance in text: rs587776783
PubMed Link: 28851938
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_9247.pdf
  • 41598_2017_9247_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: RB1: 1215+1G>A; rs587776783
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
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Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

Molecular Vision
Singh, Jaya J; Mishra, Avshesh A; Pandian, Arunachalam Jayamuruga AJ; Mallipatna, Ashwin C AC; Khetan, Vikas V; Sripriya, S S; Kapoor, Suman S; Agarwal, Smita S; Sankaran, Satish S; Katragadda, Shanmukh S; Veeramachaneni, Vamsi V; Hariharan, Ramesh R; Subramanian, Kalyanasundaram K; Mannan, Ashraf U AU
Publication Date: 2016

Variant appearance in text: RB1: 1215+1G>A; rs587776783
PubMed Link: 27582626
Variant Present in the following documents:
  • Main text
  • mv-v22-1036.pdf
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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

Molecular Vision
Kalsoom, Saeeda S; Wasim, Muhammad M; Afzal, Sibtain S; Shahzad, Muhammad Saqib MS; Ramzan, Shaiqa S; Awan, Ali Raza AR; Anjum, Aftab Ahmed AA; Ramzan, Khushnooda K
Publication Date: 2015

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 26396485
Variant Present in the following documents:
  • Main text
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Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

European Journal Of Human Genetics : Ejhg
Amitrano, Sara S; Marozza, Annabella A; Somma, Serena S; Imperatore, Valentina V; Hadjistilianou, Theodora T; De Francesco, Sonia S; Toti, Paolo P; Galimberti, Daniela D; Meloni, Ilaria I; Cetta, Francesco F; Piu, Pietro P; Di Marco, Chiara C; Dosa, Laura L; Lo Rizzo, Caterina C; Carignani, Giulia G; Mencarelli, Maria Antonietta MA; Mari, Francesca F; Renieri, Alessandra A; Ariani, Francesca F
Publication Date: 2015-11

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 25712084
Variant Present in the following documents:
  • Main text
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Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.

Plos One
Ayari-Jeridi, Hajer H; Moran, Kimberly K; Chebbi, Amel A; Bouguila, Hédi H; Abbes, Imen I; Charradi, Khaoula K; Benammar-Elgaaïed, Amel A; Ganguly, Arupa A
Publication Date: 2015

Variant appearance in text: RB1: 1215+1G>A
PubMed Link: 25602518
Variant Present in the following documents:
  • Main text
  • pone.0116615.pdf
  • pone.0116615.s001.xlsx, sheet 4
  • pone.0116615.s001.xlsx, sheet 3
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