Publications:

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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: TP53: 919+1G>A

PubMed Link: 37308490

Variant Present in the following documents:

• 41467_2023_39139_MOESM4_ESM.xlsx, sheet 3
• 41467_2023_39139_MOESM4_ESM.xlsx, sheet 7

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The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.

Journal Of Translational Medicine

Díaz de Ståhl, Teresita T; Shamikh, Alia A; Mayrhofer, Markus M; Juhos, Szilvester S; Basmaci, Elisa E; Prochazka, Gabriela G; Garcia, Maxime M; Somarajan, Praveen Raj PR; Zielinska-Chomej, Katarzyna K; Illies, Christopher C; Øra, Ingrid I; Siesjö, Peter P; Sandström, Per-Erik PE; Stenman, Jakob J; Sabel, Magnus M; Gustavsson, Bengt B; Kogner, Per P; Pfeifer, Susan S; Ljungman, Gustaf G; Sandgren, Johanna J; Nistér, Monica M

Publication Date: 2023-05-23

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 37221626

Variant Present in the following documents:

• 12967_2023_4178_MOESM2_ESM.xlsx, sheet 1

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Homologous recombination deficiency derived from whole-genome sequencing predicts platinum response in triple-negative breast cancers.

Nature Communications

Ter Brugge, Petra P; Moser, Sarah C SC; Bièche, Ivan I; Kristel, Petra P; Ibadioune, Sabrina S; Eeckhoutte, Alexandre A; de Bruijn, Roebi R; van der Burg, Eline E; Lutz, Catrin C; Annunziato, Stefano S; de Ruiter, Julian J; Masliah Planchon, Julien J; Vacher, Sophie S; Courtois, Laura L; El-Botty, Rania R; Dahmani, Ahmed A; Montaudon, Elodie E; Morisset, Ludivine L; Sourd, Laura L; Huguet, Léa L; Derrien, Heloise H; Nemati, Fariba F; Chateau-Joubert, Sophie S; Larcher, Thibaut T; Salomon, Anne A; Decaudin, Didier D; Reyal, Fabien F; Coussy, Florence F; Popova, Tatiana T; Wesseling, Jelle J; Stern, Marc-Henri MH; Jonkers, Jos J; Marangoni, Elisabetta E

Publication Date: 2023-04-07

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 37029129

Variant Present in the following documents:

• 41467_2023_37537_MOESM4_ESM.xlsx, sheet 1

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Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Nature Communications

Cotto, Kelsy C KC; Feng, Yang-Yang YY; Ramu, Avinash A; Richters, Megan M; Freshour, Sharon L SL; Skidmore, Zachary L ZL; Xia, Huiming H; McMichael, Joshua F JF; Kunisaki, Jason J; Campbell, Katie M KM; Chen, Timothy Hung-Po TH; Rozycki, Emily B EB; Adkins, Douglas D; Devarakonda, Siddhartha S; Sankararaman, Sumithra S; Lin, Yiing Y; Chapman, William C WC; Maher, Christopher A CA; Arora, Vivek V; Dunn, Gavin P GP; Uppaluri, Ravindra R; Govindan, Ramaswamy R; Griffith, Obi L OL; Griffith, Malachi M

Publication Date: 2023-03-22

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 36949070

Variant Present in the following documents:

• 41467_2023_37266_MOESM8_ESM.xlsx, sheet 1

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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: TP53: 919+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.

Journal Of Oncology

Jin, Yan Y; Zhao, Xueke X; Song, Xin X; Wang, Ran R; Fan, Zongmin Z; Wang, Panpan P; Yang, Miaomiao M; Zhou, Fuyou F; Bao, Qide Q; Wang, Lidong L

Publication Date: 2023

Variant appearance in text: p53: 919+1G>A

PubMed Link: 36660245

Variant Present in the following documents:

• JO2023-3801526.pdf

View BVdb publication page

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Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology

Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN

Publication Date: 2022

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 36578946

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

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Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.

Cancers

Alba-Pavón, Piedad P; Alaña, Lide L; Astigarraga, Itziar I; Villate, Olatz O

Publication Date: 2022-12-02

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 36497448

Variant Present in the following documents:

• Main text
• cancers-14-05967.pdf

View BVdb publication page

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Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ

Publication Date: 2022-12-06

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 36442087

Variant Present in the following documents:

• pnas.2211429119.sd02.xlsx, sheet 1

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Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.

Npj Precision Oncology

de Bitter, Tessa J J TJJ; de Reuver, Philip R PR; de Savornin Lohman, Elise A J EAJ; Kroeze, Leonie I LI; Vink-Börger, Marianne E ME; van Vliet, Shannon S; Simmer, Femke F; von Rhein, Daniel D; Jansen, Erik A M EAM; Verheij, Joanne J; van Herpen, Carla M L CML; Nagtegaal, Iris D ID; Ligtenberg, Marjolijn J L MJL; van der Post, Rachel S RS

Publication Date: 2022-11-05

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 36335173

Variant Present in the following documents:

• 41698_2022_327_MOESM2_ESM.xlsx, sheet 3

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Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications

Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA

Publication Date: 2022-10

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 36311816

Variant Present in the following documents:

• Main text
• crc-22-0314.pdf
• crc-22-0314-s02.xlsx, sheet 6

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Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Cancer Communications (London, England)

Wu, Huanwen H; Yu, Zicheng Z; Liu, Yueping Y; Guo, Lei L; Teng, Lianghong L; Guo, Lingchuan L; Liang, Li L; Wang, Jing J; Gao, Jie J; Li, Ruiyu R; Yang, Ling L; Nie, Xiu X; Su, Dan D; Liang, Zhiyong Z

Publication Date: 2022-10-20

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 36264285

Variant Present in the following documents:

• CAC2-42-1367-s002.xlsx, sheet 3

View BVdb publication page

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Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

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Comparing single-target and multitarget approaches for postoperative circulating tumour DNA detection in stage II-III colorectal cancer patients.

Molecular Oncology

Henriksen, Tenna Vesterman TV; Reinert, Thomas T; Rasmussen, Mads Heilskov MH; Demuth, Christina C; Løve, Uffe Schou US; Madsen, Anders Husted AH; Gotschalck, Kåre Andersson KA; Iversen, Lene Hjerrild LH; Andersen, Claus Lindbjerg CL

Publication Date: 2022-10

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 35895438

Variant Present in the following documents:

• MOL2-16-3654-s002.xlsx, sheet 1

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: TP53: 782+481G>A

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer.

Plos One

Marbun, Vania Myralda Giamour VMG; Erlina, Linda L; Lalisang, Toar Jean Maurice TJM

Publication Date: 2022

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 35709138

Variant Present in the following documents:

• Main text
• pone.0267090.pdf

View BVdb publication page

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Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Scientific Reports

Huang, Fuxue F; Li, Jingjing J; Wen, Xizhi X; Zhu, Baoyan B; Liu, Wei W; Wang, Jiuhong J; Jiang, Hang H; Ding, Ya Y; Li, Dandan D; Zhang, Xiaoshi X

Publication Date: 2022-06-10

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 35688842

Variant Present in the following documents:

• 41598_2022_13391_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine

Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT

Publication Date: 2022-06-03

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 35655252

Variant Present in the following documents:

• 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine

Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP

Publication Date: 2022-06

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 35617825

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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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: TP53: 919+1G>A

PubMed Link: 35306340

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Successful treatment using immunotherapy in combination with chemotherapy for metastatic squamous cell carcinoma of unknown primary origin with bulky abdominal mass: A case report.

Medicine

Zhang, Min M; Zhao, Meng M; Jin, Li-Fang LF; Shen, Wei-Zhang WZ

Publication Date: 2021-12-03

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 35049231

Variant Present in the following documents:

• Main text
• medi-100-e28074.pdf

View BVdb publication page

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Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.

Scientific Reports

Bastos-Oreiro, Mariana M; Suárez-González, Julia J; Andrés-Zayas, Cristina C; Carrión, Natalia Carolina NC; Moreno, Solsiré S; Carbonell, Diego D; Chicano, María M; Muñiz, Paula P; Sanz, Laura L; Diaz-Crespo, Francisco Javier FJ; Menarguez, Javier J; Diez-Martín, José Luis JL; Buño, Ismael I; Martínez-Laperche, Carolina C

Publication Date: 2021-11-24

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 34819573

Variant Present in the following documents:

• 41598_2021_2362_MOESM10_ESM.xlsx, sheet 2

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Alternative splicing of mRNA in colorectal cancer: new strategies for tumor diagnosis and treatment.

Cell Death & Disease

Chen, Yanyan Y; Huang, Mengxi M; Liu, Xiaolong X; Huang, Yadi Y; Liu, Chao C; Zhu, Jialong J; Fu, Gongbo G; Lei, Zengjie Z; Chu, Xiaoyuan X

Publication Date: 2021-07-30

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 34330892

Variant Present in the following documents:

• Main text
• 41419_2021_Article_4031.pdf

View BVdb publication page

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High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Journal Of Medical Genetics

Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ

Publication Date: 2022-02

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 33758026

Variant Present in the following documents:

• jmedgenet-2020-107347supp001.pdf

View BVdb publication page

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High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Journal Of Medical Genetics

Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ

Publication Date: 2021-03-23

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 33758026

Variant Present in the following documents:

• jmedgenet-2020-107347supp001.pdf

View BVdb publication page

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Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Experimental Hematology & Oncology

Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J

Publication Date: 2021-02-05

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 33546774

Variant Present in the following documents:

• 40164_2021_200_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: TP53: 919+1G>A

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

Human Mutation

Fortuno, Cristina C; Lee, Kristy K; Olivier, Magali M; Pesaran, Tina T; Mai, Phuong L PL; de Andrade, Kelvin C KC; Attardi, Laura D LD; Crowley, Stephanie S; Evans, D Gareth DG; Feng, Bing-Jian BJ; Foreman, Ann K M AKM; Frone, Megan N MN; Huether, Robert R; James, Paul A PA; McGoldrick, Kelly K; Mester, Jessica J; Seifert, Bryce A BA; Slavin, Thomas P TP; Witkowski, Leora L; Zhang, Liying L; Plon, Sharon E SE; Spurdle, Amanda B AB; Savage, Sharon A SA; ,

Publication Date: 2021-03

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 33300245

Variant Present in the following documents:

• Main text

View BVdb publication page

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Simultaneous diagnosis of liver PEComa in a family with known Li-Fraumeni syndrome: a case report.

Clinical Sarcoma Research

Galera López, María Del Mar MDM; Márquez Rodas, Iván I; Agra Pujol, Carolina C; García Pérez, Ángela Á; Velasco Sánchez, Enrique E; Álvarez Álvarez, Rosa R

Publication Date: 2020-11-24

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 33292569

Variant Present in the following documents:

• Main text
• 13569_2020_Article_143.pdf

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Bmc Cancer

Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF

Publication Date: 2020-07-31

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 32736575

Variant Present in the following documents:

• 12885_2020_7198_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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ALK-Rearranged Non-Small Cell Lung Cancer in 2020: Real-World Triumphs in an Era of Multigeneration ALK-Inhibitor Sequencing Informed by Drug Resistance Profiling.

The Oncologist

Itchins, Malinda M; Lau, Brandon B; Hudson, Amanda L AL; Westman, Helen H; Xia, Cathy Yi CY; Hayes, Sarah A SA; Howell, Viive M VM; Rodriguez, Michael M; Cooper, Wendy A WA; Wei, Heng H; Buckland, Michael M; Li, Bob T BT; Li, Mark M; Rathi, Vivek V; Fox, Stephen B SB; Gill, Anthony J AJ; Clarke, Stephen J SJ; Boyer, Michael J MJ; Pavlakis, Nick N

Publication Date: 2020-08

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 32558067

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: TP53: 919+1G>A

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Scientific Reports

Ticha, Ivana I; Hojny, Jan J; Michalkova, Romana R; Kodet, Ondrej O; Krkavcova, Eva E; Hajkova, Nikola N; Nemejcova, Kristyna K; Bartu, Michaela M; Jaksa, Radek R; Dura, Miroslav M; Kanwal, Madiha M; Martinikova, Andra S AS; Macurek, Libor L; Zemankova, Petra P; Kleibl, Zdenek Z; Dundr, Pavel P

Publication Date: 2019-11-19

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 31745173

Variant Present in the following documents:

• Main text
• 41598_2019_Article_53636.pdf

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Transcriptional and functional consequences of TP53 splice mutations in colorectal cancer.

Oncogenesis

Smeby, Jørgen J; Sveen, Anita A; Eilertsen, Ina A IA; Danielsen, Stine A SA; Hoff, Andreas M AM; Eide, Peter W PW; Johannessen, Bjarne B; Hektoen, Merete M; Skotheim, Rolf I RI; Guren, Marianne G MG; Nesbakken, Arild A; Lothe, Ragnhild A RA

Publication Date: 2019-05-15

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 31092812

Variant Present in the following documents:

• Main text
• 41389_2019_Article_141.pdf

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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1

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Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.

Breast Cancer Research And Treatment

Aceto, Gitana Maria GM; Awadelkarim, Khalid Dafaallah KD; Di Nicola, Marta M; Moscatello, Carmelo C; Pantalone, Mattia Russel MR; Verginelli, Fabio F; Elwali, Nasr Eldin NE; Mariani-Costantini, Renato R

Publication Date: 2019-06

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 30796655

Variant Present in the following documents:

• Main text
• 10549_2019_Article_5168.pdf

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Genomic loss of HLA alleles may affect the clinical outcome in low-risk myelodysplastic syndrome patients.

Oncotarget

Montes, Paola P; Kerick, Martin M; Bernal, Mónica M; Hernández, Francisca F; Jiménez, Pilar P; Garrido, Pilar P; Márquez, Ana A; Jurado, Manuel M; Martin, Javier J; Garrido, Federico F; Ruiz-Cabello, Francisco F

Publication Date: 2018-12-11

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 30651926

Variant Present in the following documents:

• oncotarget-09-36929-s001.pdf

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Local mutational diversity drives intratumoral immune heterogeneity in non-small cell lung cancer.

Nature Communications

Jia, Qingzhu Q; Wu, Wei W; Wang, Yuqi Y; Alexander, Peter B PB; Sun, Chengdu C; Gong, Zhihua Z; Cheng, Jia-Nan JN; Sun, Huaibo H; Guan, Yanfang Y; Xia, Xuefeng X; Yang, Ling L; Yi, Xin X; Wan, Yisong Y YY; Wang, Haidong H; He, Ji J; Futreal, P Andrew PA; Li, Qi-Jing QJ; Zhu, Bo B

Publication Date: 2018-12-18

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 30560866

Variant Present in the following documents:

• 41467_2018_7767_MOESM5_ESM.xlsx, sheet 1

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Functional genomic landscape of acute myeloid leukaemia.

Nature

Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ

Publication Date: 2018-10

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 30333627

Variant Present in the following documents:

• NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 16
• NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 7

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Copy number signatures and mutational processes in ovarian carcinoma.

Nature Genetics

Macintyre, Geoff G; Goranova, Teodora E TE; De Silva, Dilrini D; Ennis, Darren D; Piskorz, Anna M AM; Eldridge, Matthew M; Sie, Daoud D; Lewsley, Liz-Anne LA; Hanif, Aishah A; Wilson, Cheryl C; Dowson, Suzanne S; Glasspool, Rosalind M RM; Lockley, Michelle M; Brockbank, Elly E; Montes, Ana A; Walther, Axel A; Sundar, Sudha S; Edmondson, Richard R; Hall, Geoff D GD; Clamp, Andrew A; Gourley, Charlie C; Hall, Marcia M; Fotopoulou, Christina C; Gabra, Hani H; Paul, James J; Supernat, Anna A; Millan, David D; Hoyle, Aoisha A; Bryson, Gareth G; Nourse, Craig C; Mincarelli, Laura L; Sanchez, Luis Navarro LN; Ylstra, Bauke B; Jimenez-Linan, Mercedes M; Moore, Luiza L; Hofmann, Oliver O; Markowetz, Florian F; McNeish, Iain A IA; Brenton, James D JD

Publication Date: 2018-09

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 30104763

Variant Present in the following documents:

• NIHMS78219-supplement-3.xlsx, sheet 1

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Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark.

Plos One

Stoltze, Ulrik U; Skytte, Anne-Bine AB; Roed, Henriette H; Hasle, Henrik H; Ejlertsen, Bent B; Overeem Hansen, Thomas van TV; Schmiegelow, Kjeld K; Gerdes, Anne-Marie AM; Wadt, Karin K

Publication Date: 2018

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 29324801

Variant Present in the following documents:

• Main text
• pone.0190050.pdf

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 29267365

Variant Present in the following documents:

• pone.0189881.s008.xlsx, sheet 1

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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: TP53: 919+1G>A

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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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: TP53: 919+1G>A

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

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Genomic and molecular characterization of esophageal squamous cell carcinoma.

Nature Genetics

Lin, De-Chen DC; Hao, Jia-Jie JJ; Nagata, Yasunobu Y; Xu, Liang L; Shang, Li L; Meng, Xuan X; Sato, Yusuke Y; Okuno, Yusuke Y; Varela, Ana Maria AM; Ding, Ling-Wen LW; Garg, Manoj M; Liu, Li-Zhen LZ; Yang, Henry H; Yin, Dong D; Shi, Zhi-Zhou ZZ; Jiang, Yan-Yi YY; Gu, Wen-Yue WY; Gong, Ting T; Zhang, Yu Y; Xu, Xin X; Kalid, Ori O; Shacham, Sharon S; Ogawa, Seishi S; Wang, Ming-Rong MR; Koeffler, H Phillip HP

Publication Date: 2014-05

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 24686850

Variant Present in the following documents:

• NIHMS573166-supplement-9.xlsx, sheet 6

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Rb loss is characteristic of prostatic small cell neuroendocrine carcinoma.

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

Tan, Hsueh-Li HL; Sood, Akshay A; Rahimi, Hameed A HA; Wang, Wenle W; Gupta, Nilesh N; Hicks, Jessica J; Mosier, Stacy S; Gocke, Christopher D CD; Epstein, Jonathan I JI; Netto, George J GJ; Liu, Wennuan W; Isaacs, William B WB; De Marzo, Angelo M AM; Lotan, Tamara L TL

Publication Date: 2014-02-15

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 24323898

Variant Present in the following documents:

• Main text

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Extremely high Tp53 mutation load in esophageal squamous cell carcinoma in Golestan Province, Iran.

Plos One

Abedi-Ardekani, Behnoush B; Kamangar, Farin F; Sotoudeh, Masoud M; Villar, Stephanie S; Islami, Farhad F; Aghcheli, Karim K; Nasrollahzadeh, Dariush D; Taghavi, Noushin N; Dawsey, Sanford M SM; Abnet, Christian C CC; Hewitt, Stephen M SM; Fahimi, Saman S; Saidi, Farrokh F; Brennan, Paul P; Boffetta, Paolo P; Malekzadeh, Reza R; Hainaut, Pierre P

Publication Date: 2011

Variant appearance in text: TP53: 919+1G>A

PubMed Link: 22216294

Variant Present in the following documents:

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