Publications:

---

Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine

Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW

Publication Date: 2023-03-16

Variant appearance in text: NOTCH1: A465T

PubMed Link: 36928815

Variant Present in the following documents:

• 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5

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: NOTCH1: 1393G>A; Ala465Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Diagnostic and therapeutic challenges of glioblastoma as an initial malignancy of constitutional mismatch repair deficiency (CMMRD): two case reports and a literature review.

Bmc Medical Genomics

Onishi, Shumpei S; Yamasaki, Fumiyuki F; Kuraoka, Kazuya K; Taguchi, Akira A; Takayasu, Takeshi T; Akagi, Kiwamu K; Hinoi, Takao T

Publication Date: 2023-01-16

Variant appearance in text: NOTCH1: A465T

PubMed Link: 36647049

Variant Present in the following documents:

• 12920_2022_1403_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: NOTCH1: A465T

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

---

An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 3
• Table_2.xlsx, sheet 2

View BVdb publication page

---

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: NOTCH1: A465T

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: NOTCH1: 1393G>A; Ala465Thr

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

---

Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.

Npj Precision Oncology

Bonner, Erin R ER; Harrington, Robin R; Eze, Augustine A; Bornhorst, Miriam M; Kline, Cassie N CN; Gordish-Dressman, Heather H; Dawood, Adam A; Das, Biswajit B; Chen, Li L; Pauly, Rini R; Williams, P Mickey PM; Karlovich, Chris C; Peach, Amanda A; Howell, D'andra D; Doroshow, James J; Kilburn, Lindsay L; Packer, Roger J RJ; Mueller, Sabine S; Nazarian, Javad J

Publication Date: 2022-09-06

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 36068285

Variant Present in the following documents:

• 41698_2022_306_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

---

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

A clinically annotated post-mortem approach to study multi-organ somatic mutational clonality in normal tissues.

Scientific Reports

Luijts, Tom T; Elliott, Kerryn K; Siaw, Joachim Tetteh JT; Van de Velde, Joris J; Beyls, Elien E; Claeys, Arne A; Lammens, Tim T; Larsson, Erik E; Willaert, Wouter W; Vral, Anne A; Van den Eynden, Jimmy J

Publication Date: 2022-06-20

Variant appearance in text: NOTCH1: A465T

PubMed Link: 35725896

Variant Present in the following documents:

• 41598_2022_14240_MOESM2_ESM.xls, sheet 2

View BVdb publication page

---

Sequencing of Cutaneous Squamous Cell Carcinoma Primary Tumors and Patient-Matched Metastases Reveals ALK as a Potential Driver in Metastases and Low Mutational Concordance in Immunocompromised Patients.

Jid Innovations : Skin Science From Molecules To Population Health

Lobl, Marissa B MB; Clarey, Dillon D DD; Higgins, Shauna S; Sutton, Adam A; Wysong, Ashley A

Publication Date: 2022-07

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 35620707

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))

Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L

Publication Date: 2022-05-10

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 35509869

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

---

Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine

Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H

Publication Date: 2022-04

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 35384329

Variant Present in the following documents:

• CTM2-12-e799-s006.xlsx, sheet 2

View BVdb publication page

---

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: NOTCH1: 1393G>A; A465T

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: NOTCH1: A465T

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5

View BVdb publication page

---

Deleterious mutations in esophageal carcinoma cuniculatum detected by next generation sequencing.

International Journal Of Clinical And Experimental Pathology

Yin, Feng F; Wang, Kai K; Hu, Ming M; Starostik, Petr P; Newsom, Kimberly J KJ; Liu, Xiuli X

Publication Date: 2022

Variant appearance in text: NOTCH1: 1393G>A; Ala465Thr

PubMed Link: 35145582

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.

Journal Of Gynecologic Oncology

Hong, Jin Hwa JH; Cho, Hyun Woong HW; Ouh, Yung-Taek YT; Lee, Jae Kwan JK; Chun, Yikyeong Y; Gim, Jeong-An JA

Publication Date: 2022-05

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 35128859

Variant Present in the following documents:

• jgo-33-e29-s002.xls, sheet 1

View BVdb publication page

---

Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: NOTCH1: 1393G>A

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine

Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021-11

Variant appearance in text: NOTCH1: 1393G>A; Ala465Thr

PubMed Link: 34841677

Variant Present in the following documents:

• CTM2-11-e567-s004.xlsx, sheet 5

View BVdb publication page

---

Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology

Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 34712610

Variant Present in the following documents:

• DataSheet_1.xls, sheet 5

View BVdb publication page

---

Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Plos One

Cui, Ying Y; Kim, Hae-Suk HS; Cho, Eunae Sandra ES; Han, Dawool D; Park, Jung Ah JA; Park, Ju Yeong JY; Nam, Woong W; Kim, Hyung Jun HJ; Cha, In-Ho IH; Cha, Yong Hoon YH

Publication Date: 2021

Variant appearance in text: NOTCH1: 1393G>A; Ala465Thr

PubMed Link: 34478472

Variant Present in the following documents:

• pone.0256979.s002.xlsx, sheet 1

View BVdb publication page

---

Inhibition of mTOR signaling and clinical activity of metformin in oral premalignant lesions.

Jci Insight

Gutkind, J Silvio JS; Molinolo, Alfredo A AA; Wu, Xingyu X; Wang, Zhiyong Z; Nachmanson, Daniela D; Harismendy, Olivier O; Alexandrov, Ludmil B LB; Wuertz, Beverly R BR; Ondrey, Frank G FG; Laronde, Denise D; Rock, Leigha D LD; Rosin, Miriam M; Coffey, Charles C; Butler, Valerie D VD; Bengtson, Lisa L; Hsu, Chiu-Hsieh CH; Bauman, Julie E JE; Hewitt, Stephen M SM; Cohen, Ezra Ew EE; Chow, H-H Sherry HS; Lippman, Scott M SM; Szabo, Eva E

Publication Date: 2021-09-08

Variant appearance in text: NOTCH1: Ala465Thr

PubMed Link: 34255745

Variant Present in the following documents:

• jciinsight-6-147096-s149.pdf

View BVdb publication page

---

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One

Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R

Publication Date: 2021

Variant appearance in text: NOTCH1: A465T

PubMed Link: 33556149

Variant Present in the following documents:

• pone.0246048.s008.xlsx, sheet 1

View BVdb publication page

---

The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

---

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: NOTCH1: A465T

PubMed Link: 33133066

Variant Present in the following documents:

• Table_6.xlsx, sheet 7
• Table_6.xlsx, sheet 2
• Table_1.xlsx, sheet 2

View BVdb publication page

---

Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: NOTCH1: A465T

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: NOTCH1: A465T

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: NOTCH1: A465T

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

YAP1 amplification as a prognostic factor of definitive chemoradiotherapy in nonsurgical esophageal squamous cell carcinoma.

Cancer Medicine

Dai, Honghai H; Shao, Yang W YW; Tong, Xiaoling X; Wu, Xue X; Pang, Jiaohui J; Feng, Alei A; Yang, Zhe Z

Publication Date: 2020-03

Variant appearance in text: NOTCH1: A465T

PubMed Link: 31851786

Variant Present in the following documents:

• CAM4-9-1628-s002.xlsx, sheet 1

View BVdb publication page

---

Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: NOTCH1: A465T

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Recurrent genetic alterations and biomarker expression in primary and metastatic squamous cell carcinomas of the vulva.

Human Pathology

Xing, Deyin D; Liu, Yuehua Y; Park, Hyeon Jin HJ; Baek, Inji I; Tran, Hung H; Cheang, Gloria G; Novo, Jorge J; Dillon, Jessica J; Matoso, Andres A; Farmer, Emily E; Cheng, Max A MA; Tsai, Ya-Chea YC; Lombardo, Kara K; Conner, Michael G MG; Vang, Russell R; Hung, Chien-Fu CF; Wu, Tzyy-Choou TC; Song, Wei W

Publication Date: 2019-10

Variant appearance in text: NOTCH1: Ala465Thr

PubMed Link: 31437519

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.

Cancer Medicine

Liao, Yuwei Y; Ma, Zhaokui Z; Zhang, Yu Y; Li, Dan D; Lv, Dekang D; Chen, Zhisheng Z; Li, Peiying P; Ai-Dherasi, Aisha A; Zheng, Feng F; Tian, Jichao J; Zou, Kun K; Wang, Yue Y; Wang, Dongxia D; Cordova, Miguel M; Zhou, Huan H; Li, Xiuhua X; Liu, Dan D; Yu, Ruofei R; Zhang, Qingzheng Q; Zhang, Xiaolong X; Zhang, Jian J; Zhang, Xuehong X; Zhang, Xia X; Li, Yulong Y; Shao, Yanyan Y; Song, Luyao L; Liu, Ruimei R; Wang, Yichen Y; Sufiyan, Sufiyan S; Liu, Quentin Q; Owen, Gareth I GI; Li, Zhiguang Z; Chen, Jun J

Publication Date: 2019-09

Variant appearance in text: NOTCH1: A465T

PubMed Link: 31369215

Variant Present in the following documents:

• CAM4-8-5673-s008.xlsx, sheet 8
• CAM4-8-5673-s008.xlsx, sheet 5

View BVdb publication page

---

Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.

Cancer Science

Sunami, Kuniko K; Ichikawa, Hitoshi H; Kubo, Takashi T; Kato, Mamoru M; Fujiwara, Yutaka Y; Shimomura, Akihiko A; Koyama, Takafumi T; Kakishima, Hiroki H; Kitami, Mayuko M; Matsushita, Hiromichi H; Furukawa, Eisaku E; Narushima, Daichi D; Nagai, Momoko M; Taniguchi, Hirokazu H; Motoi, Noriko N; Sekine, Shigeki S; Maeshima, Akiko A; Mori, Taisuke T; Watanabe, Reiko R; Yoshida, Masayuki M; Yoshida, Akihiko A; Yoshida, Hiroshi H; Satomi, Kaishi K; Sukeda, Aoi A; Hashimoto, Taiki T; Shimizu, Toshio T; Iwasa, Satoru S; Yonemori, Kan K; Kato, Ken K; Morizane, Chigusa C; Ogawa, Chitose C; Tanabe, Noriko N; Sugano, Kokichi K; Hiraoka, Nobuyoshi N; Tamura, Kenji K; Yoshida, Teruhiko T; Fujiwara, Yasuhiro Y; Ochiai, Atsushi A; Yamamoto, Noboru N; Kohno, Takashi T

Publication Date: 2019-04

Variant appearance in text: NOTCH1: A465T

PubMed Link: 30742731

Variant Present in the following documents:

• CAS-110-1480-s003.xlsx, sheet 3

View BVdb publication page

---

Mutation allele frequency threshold does not affect prognostic analysis using next-generation sequencing in oral squamous cell carcinoma.

Bmc Cancer

Ma, Jie J; Fu, Yong Y; Tu, Yao-Yao YY; Liu, Ying Y; Tan, Yi-Ran YR; Ju, Wu-Tong WT; Pickering, Curtis R CR; Myers, Jeffrey N JN; Zhang, Zhi-Yuan ZY; Zhong, Lai-Ping LP

Publication Date: 2018-07-24

Variant appearance in text: NOTCH1: Ala465Thr

PubMed Link: 30041611

Variant Present in the following documents:

• Main text
• 12885_2018_Article_4481.pdf

View BVdb publication page

---

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Human Mutation

Meester, Josephina A N JAN; Sukalo, Maja M; Schröder, Kim C KC; Schanze, Denny D; Baynam, Gareth G; Borck, Guntram G; Bramswig, Nuria C NC; Duman, Duygu D; Gilbert-Dussardier, Brigitte B; Holder-Espinasse, Muriel M; Itin, Peter P; Johnson, Diana S DS; Joss, Shelagh S; Koillinen, Hannele H; McKenzie, Fiona F; Morton, Jenny J; Nelle, Heike H; Reardon, Willie W; Roll, Claudia C; Salih, Mustafa A MA; Savarirayan, Ravi R; Scurr, Ingrid I; Splitt, Miranda M; Thompson, Elizabeth E; Titheradge, Hannah H; Travers, Colm P CP; Van Maldergem, Lionel L; Whiteford, Margo M; Wieczorek, Dagmar D; Vandeweyer, Geert G; Trembath, Richard R; Van Laer, Lut L; Loeys, Bart L BL; Zenker, Martin M; Southgate, Laura L; Wuyts, Wim W

Publication Date: 2018-09

Variant appearance in text: NOTCH1: 1393G>A; Ala465Thr

PubMed Link: 29924900

Variant Present in the following documents:

• Main text
• HUMU-39-1246-s001.pdf
• HUMU-39-1246.pdf

View BVdb publication page

---

Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.

Scientific Reports

Fan, Yu Y; Hu, Yu Y; Yan, Cheng C; Goldman, Radoslav R; Pan, Yang Y; Mazumder, Raja R; Dingerdissen, Hayley M HM

Publication Date: 2018-03-12

Variant appearance in text: NOTCH1: A465T

PubMed Link: 29531238

Variant Present in the following documents:

• Main text
• 41598_2018_Article_22345.pdf

View BVdb publication page

---

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: A465T

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

View BVdb publication page

---

Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: NOTCH1: 1393G>A; A465T

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Genomic characterization of tobacco/nut chewing HPV-negative early stage tongue tumors identify MMP10 asa candidate to predict metastases.

Oral Oncology

Upadhyay, Pawan P; Gardi, Nilesh N; Desai, Sanket S; Chandrani, Pratik P; Joshi, Asim A; Dharavath, Bhaskar B; Arora, Priyanca P; Bal, Munita M; Nair, Sudhir S; Dutt, Amit A

Publication Date: 2017-10

Variant appearance in text: NOTCH1: A465T

PubMed Link: 28939077

Variant Present in the following documents:

• mmc3.xlsx, sheet 5

View BVdb publication page

---

Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.

Nature Communications

Chang, Jiang J; Tan, Wenle W; Ling, Zhiqiang Z; Xi, Ruibin R; Shao, Mingming M; Chen, Mengjie M; Luo, Yingying Y; Zhao, Yanjie Y; Liu, Yun Y; Huang, Xiancong X; Xia, Yuchao Y; Hu, Jinlin J; Parker, Joel S JS; Marron, David D; Cui, Qionghua Q; Peng, Linna L; Chu, Jiahui J; Li, Hongmin H; Du, Zhongli Z; Han, Yaling Y; Tan, Wen W; Liu, Zhihua Z; Zhan, Qimin Q; Li, Yun Y; Mao, Weimin W; Wu, Chen C; Lin, Dongxin D

Publication Date: 2017-05-26

Variant appearance in text: NOTCH1: Ala465Thr

PubMed Link: 28548104

Variant Present in the following documents:

• ncomms15290-s4.xlsx, sheet 1

View BVdb publication page

---

Mutation status among patients with sinonasal mucosal melanoma and its impact on survival.

British Journal Of Cancer

Amit, Moran M; Tam, Samantha S; Abdelmeguid, Ahmed S AS; Roberts, Dianna B DB; Takahashi, Yoko Y; Raza, Shaan M SM; Su, Shirley Y SY; Kupferman, Michael E ME; DeMonte, Franco F; Hanna, Ehab Y EY

Publication Date: 2017-06-06

Variant appearance in text: NOTCH1: A465T

PubMed Link: 28494469

Variant Present in the following documents:

• Main text
• bjc2017125a.pdf

View BVdb publication page

---

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Genome Medicine

Chalmers, Zachary R ZR; Connelly, Caitlin F CF; Fabrizio, David D; Gay, Laurie L; Ali, Siraj M SM; Ennis, Riley R; Schrock, Alexa A; Campbell, Brittany B; Shlien, Adam A; Chmielecki, Juliann J; Huang, Franklin F; He, Yuting Y; Sun, James J; Tabori, Uri U; Kennedy, Mark M; Lieber, Daniel S DS; Roels, Steven S; White, Jared J; Otto, Geoffrey A GA; Ross, Jeffrey S JS; Garraway, Levi L; Miller, Vincent A VA; Stephens, Phillip J PJ; Frampton, Garrett M GM

Publication Date: 2017-04-19

Variant appearance in text: NOTCH1: A465T

PubMed Link: 28420421

Variant Present in the following documents:

• 13073_2017_424_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications

Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M

Publication Date: 2017-02-14

Variant appearance in text: NOTCH1: A465T

PubMed Link: 28195122

Variant Present in the following documents:

• ncomms14433-s3.xlsx, sheet 3

View BVdb publication page

---

Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine

Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M

Publication Date: 2017-02-02

Variant appearance in text: NOTCH1: A465T

PubMed Link: 28153049

Variant Present in the following documents:

• 13073_2017_401_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.

Nature Communications

Cammareri, Patrizia P; Rose, Aidan M AM; Vincent, David F DF; Wang, Jun J; Nagano, Ai A; Libertini, Silvana S; Ridgway, Rachel A RA; Athineos, Dimitris D; Coates, Philip J PJ; McHugh, Angela A; Pourreyron, Celine C; Dayal, Jasbani H S JH; Larsson, Jonas J; Weidlich, Simone S; Spender, Lindsay C LC; Sapkota, Gopal P GP; Purdie, Karin J KJ; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM; Clevers, Hans H; Barker, Nick N; Karlsson, Stefan S; Pritchard, Catrin C; Marais, Richard R; Chelala, Claude C; South, Andrew P AP; Sansom, Owen J OJ; Inman, Gareth J GJ

Publication Date: 2016-08-25

Variant appearance in text: NOTCH1: A465T

PubMed Link: 27558455

Variant Present in the following documents:

• ncomms12493-s14.xlsx, sheet 1

View BVdb publication page

---

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: NOTCH1: 1393G>A; A465T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

Does Notch play a tumor suppressor role across diverse squamous cell carcinomas?

Cancer Medicine

Zhang, Min M; Biswas, Sangita S; Qin, Xin X; Gong, Wenrong W; Deng, Wenbing W; Yu, Hongjun H

Publication Date: 2016-08

Variant appearance in text: NOTCH1: A465T

PubMed Link: 27228302

Variant Present in the following documents:

• Main text
• CAM4-5-2048.pdf

View BVdb publication page

---

Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy.

Nature Communications

Findlay, John M JM; Castro-Giner, Francesc F; Makino, Seiko S; Rayner, Emily E; Kartsonaki, Christiana C; Cross, William W; Kovac, Michal M; Ulahannan, Danny D; Palles, Claire C; Gillies, Richard S RS; MacGregor, Thomas P TP; Church, David D; Maynard, Nicholas D ND; Buffa, Francesca F; Cazier, Jean-Baptiste JB; Graham, Trevor A TA; Wang, Lai-Mun LM; Sharma, Ricky A RA; Middleton, Mark M; Tomlinson, Ian I

Publication Date: 2016-04-05

Variant appearance in text: NOTCH1: Ala465Thr

PubMed Link: 27045317

Variant Present in the following documents:

• Main text
• ncomms11111-s1.pdf
• ncomms11111.pdf

View BVdb publication page

---

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: NOTCH1: A465T

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-7.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

---

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: NOTCH1: A465T

PubMed Link: 24686850

Variant Present in the following documents:

• NIHMS573166-supplement-9.xlsx, sheet 9

View BVdb publication page

---

The genetic landscape of anaplastic astrocytoma.

Oncotarget

Killela, Patrick J PJ; Pirozzi, Christopher J CJ; Reitman, Zachary J ZJ; Jones, Sian S; Rasheed, B Ahmed BA; Lipp, Eric E; Friedman, Henry H; Friedman, Allan H AH; He, Yiping Y; McLendon, Roger E RE; Bigner, Darell D DD; Yan, Hai H

Publication Date: 2014-03-30

Variant appearance in text: NOTCH1: A465T

PubMed Link: 24140581

Variant Present in the following documents:

• Main text
• oncotarget-05-1452.pdf

View BVdb publication page

---