Publications:

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Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.

Nature Genetics

Mangiante, Lise L; Alcala, Nicolas N; Sexton-Oates, Alexandra A; Di Genova, Alex A; Gonzalez-Perez, Abel A; Khandekar, Azhar A; Bergstrom, Erik N EN; Kim, Jaehee J; Liu, Xiran X; Blazquez-Encinas, Ricardo R; Giacobi, Colin C; Le Stang, Nolwenn N; Boyault, Sandrine S; Cuenin, Cyrille C; Tabone-Eglinger, Severine S; Damiola, Francesca F; Voegele, Catherine C; Ardin, Maude M; Michallet, Marie-Cecile MC; Soudade, Lorraine L; Delhomme, Tiffany M TM; Poret, Arnaud A; Brevet, Marie M; Copin, Marie-Christine MC; Giusiano-Courcambeck, Sophie S; Damotte, Diane D; Girard, Cecile C; Hofman, Veronique V; Hofman, Paul P; Mouroux, Jérôme J; Cohen, Charlotte C; Lacomme, Stephanie S; Mazieres, Julien J; de Montpreville, Vincent Thomas VT; Perrin, Corinne C; Planchard, Gaetane G; Rousseau, Nathalie N; Rouquette, Isabelle I; Sagan, Christine C; Scherpereel, Arnaud A; Thivolet, Francoise F; Vignaud, Jean-Michel JM; Jean, Didier D; Ilg, Anabelle Gilg Soit AGS; Olaso, Robert R; Meyer, Vincent V; Boland-Auge, Anne A; Deleuze, Jean-Francois JF; Altmuller, Janine J; Nuernberg, Peter P; Ibáñez-Costa, Alejandro A; Castaño, Justo P JP; Lantuejoul, Sylvie S; Ghantous, Akram A; Maussion, Charles C; Courtiol, Pierre P; Hernandez-Vargas, Hector H; Caux, Christophe C; Girard, Nicolas N; Lopez-Bigas, Nuria N; Alexandrov, Ludmil B LB; Galateau-Salle, Françoise F; Foll, Matthieu M; Fernandez-Cuesta, Lynnette L

Publication Date: 2023-03-16

Variant appearance in text: ATM: R248X

PubMed Link: 36928603

Variant Present in the following documents:

• 41588_2023_1321_MOESM4_ESM.xlsx, sheet 46

View BVdb publication page

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: ATM: 742C>T; Arg248Ter; rs730881336

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Frontiers In Oncology

Borja, Nicholas A NA; Silva-Smith, Rachel R; Huang, Marilyn M; Parekh, Dipen J DJ; Sussman, Daniel D; Tekin, Mustafa M

Publication Date: 2023

Variant appearance in text: ATM: 742C>T; Arg248Ter

PubMed Link: 36865800

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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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: ATM: 742C>T; Arg248Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: ATM: 742C>T; Arg248*

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.

Frontiers In Genetics

Jürgens, Hannes H; Roht, Laura L; Leitsalu, Liis L; Nõukas, Margit M; Palover, Marili M; Nikopensius, Tiit T; Reigo, Anu A; Kals, Mart M; Kallak, Kersti K; Kütner, Riina R; Budrikas, Kai K; Kuusk, Saskia S; Valvere, Vahur V; Laidre, Piret P; Toome, Kadri K; Rekker, Kadri K; Tooming, Mikk M; Ülle Murumets, ; Kahre, Tiina T; Kruuv-Käo, Krista K; Õunap, Katrin K; Padrik, Peeter P; Metspalu, Andres A; Esko, Tõnu T; Fischer, Krista K; Tõnisson, Neeme N

Publication Date: 2022

Variant appearance in text: ATM: 742C>T; Arg248*; rs730881336

PubMed Link: 35938029

Variant Present in the following documents:

• Main text
• fgene-13-881100.pdf

View BVdb publication page

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The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)

Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q

Publication Date: 2022-10

Variant appearance in text: ATM: R248*

PubMed Link: 35926241

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: ATM: R248*

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Durvalumab Plus Olaparib in Previously Untreated, Platinum-Ineligible Patients With Metastatic Urothelial Carcinoma: A Multicenter, Randomized, Phase II Trial (BAYOU).

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

Rosenberg, Jonathan E JE; Park, Se Hoon SH; Kozlov, Vadim V; Dao, Tu V TV; Castellano, Daniel D; Li, Jian-Ri JR; Mukherjee, Som D SD; Howells, Kathryn K; Dry, Hannah H; Lanasa, Mark C MC; Stewart, Ross R; Bajorin, Dean F DF

Publication Date: 2022-06-23

Variant appearance in text: ATM: R248*

PubMed Link: 35737919

Variant Present in the following documents:

• jco-41-043.pdf

View BVdb publication page

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Monomorphic epitheliotropic intestinal T-cell lymphoma comprises morphologic and genomic heterogeneity impacting outcome.

Haematologica

Veloza, Luis L; Cavalieri, Doriane D; Missiaglia, Edoardo E; Ledoux-Pilon, Albane A; Bisig, Bettina B; Pereira, Bruno B; Bonnet, Christophe C; Poullot, Elsa E; Quintanilla-Martinez, Leticia L; Dubois, Romain R; Llamas-Gutierrez, Francisco F; Bossard, Céline C; De Wind, Roland R; Drieux, Fanny F; Fontaine, Juliette J; Parrens, Marie M; Sandrini, Jeremy J; Fataccioli, Virginie V; Delfau-Larue, Marie-Hélène MH; Daniel, Adrien A; Lhomme, Faustine F; Clément-Filliatre, Lauriane L; Lemonnier, François F; Cairoli, Anne A; Morel, Pierre P; Glaisner, Sylvie S; Joly, Bertrand B; El Yamani, Abderrazak A; Laribi, Kamel K; Bachy, Emmanuel E; Siebert, Reiner R; Vallois, David D; Gaulard, Philippe P; Tournilhac, Olivier O; De Leval, Laurence L

Publication Date: 2022-06-16

Variant appearance in text: ATM: 742C>T; Arg248Trp

PubMed Link: 35708139

Variant Present in the following documents:

• 2022_281226_VELOZA_SUPPL.pdf

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: ATM: 742C>T; Arg248Ter; rs730881336

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 2

View BVdb publication page

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Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Human Molecular Genetics

Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER

Publication Date: 2022-08-25

Variant appearance in text: ATM: 742C>T; Arg248Ter; rs730881336

PubMed Link: 35441217

Variant Present in the following documents:

• Main text
• hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx, sheet 1

View BVdb publication page

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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: ATM: 742C>T; R248*

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Precision Medicine for BRCA/PALB2-Mutated Pancreatic Cancer and Emerging Strategies to Improve Therapeutic Responses to PARP Inhibition.

Cancers

Principe, Daniel R DR

Publication Date: 2022-02-11

Variant appearance in text: ATM: R248*

PubMed Link: 35205643

Variant Present in the following documents:

• cancers-14-00897.pdf

View BVdb publication page

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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: ATM: R248*

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

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Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.

American Journal Of Cancer Research

Liao, Haiyan H; Cai, Songhua S; Bai, Yuezong Y; Zhang, Bei B; Sheng, Yuling Y; Tong, Shuang S; Cai, Jinping J; Zhao, Feilong F; Zhao, Xiaochen X; Chen, Shiqing S; Zhang, Cheng C; Gao, Jing J

Publication Date: 2021

Variant appearance in text: ATM: 742C>T

PubMed Link: 34873480

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correction to: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.

Bmc Medical Genomics

Lee, Hoo Young HY; Jang, Dae-Hyun DH; Kim, Jae-Won JW; Lee, Dong-Woo DW; Jang, Ja-Hyun JH; Joo, Joungsu J

Publication Date: 2021-09-20

Variant appearance in text: ATM: 742C>T; Arg248Ter

PubMed Link: 34544410

Variant Present in the following documents:

• 12920_2021_Article_1086.pdf

View BVdb publication page

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Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report.

Bmc Medical Genomics

Lee, Hoo Young HY; Jang, Dae-Hyun DH; Kim, Jae-Won JW; Lee, Dong-Woo DW; Jang, Ja-Hyun JH; Joo, Joungsu J

Publication Date: 2021-08-17

Variant appearance in text: ATM: Arg248Ter

PubMed Link: 34404412

Variant Present in the following documents:

• Main text
• 12920_2021_Article_1053.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 742C>T; R248X; rs730881336

PubMed Link: 34253785

Variant Present in the following documents:

• Main text
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 2
• 41598_2021_Article_93715.pdf

View BVdb publication page

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Sequential and co-occurring DNA damage response genetic mutations impact survival in stage III colorectal cancer patients receiving adjuvant oxaliplatin-based chemotherapy.

Bmc Cancer

Lin, Peng-Chan PC; Yeh, Yu-Min YM; Chan, Ren-Hao RH; Lin, Bo-Wen BW; Chen, Po-Chuan PC; Pan, Chien-Chang CC; Shen, Meng-Ru MR

Publication Date: 2021-03-02

Variant appearance in text: ATM: R248X

PubMed Link: 33653301

Variant Present in the following documents:

• 12885_2021_7926_MOESM1_ESM.pdf

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: ATM: 742C>T; R248X

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s006.xlsx, sheet 2
• jamaoncol-e207987-s004.xlsx, sheet 2

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: ATM: 742C>T; R248*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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: ATM: 742C>T; R248*

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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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: ATM: R248*

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

International Journal Of Molecular Sciences

Brandão, Andreia A; Paulo, Paula P; Teixeira, Manuel R MR

Publication Date: 2020-07-16

Variant appearance in text: ATM: 742C>T

PubMed Link: 32708810

Variant Present in the following documents:

• ijms-21-05036-s001.pdf

View BVdb publication page

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FGFR aberrations increase the risk of brain metastases and predict poor prognosis in metastatic breast cancer patients.

Therapeutic Advances In Medical Oncology

Xie, Ning N; Tian, Can C; Wu, Hui H; Yang, Xiaohong X; Liu, Liping L; Li, Jing J; Xiao, Huawu H; Gao, Jianxiang J; Lu, Jun J; Hu, Xuming X; Cao, Min M; Shui, Zhengrong Z; Tang, Yu Y; Wang, Xiao X; Yang, Jianbo J; Hu, Zhe-Yu ZY; Ouyang, Quchang Q

Publication Date: 2020

Variant appearance in text: ATM: R248*

PubMed Link: 32499836

Variant Present in the following documents:

• Table_S5-brain.pdf

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: ATM: R248*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Genomic Profiling of Uterine Aspirates and cfDNA as an Integrative Liquid Biopsy Strategy in Endometrial Cancer.

Journal Of Clinical Medicine

Casas-Arozamena, Carlos C; Díaz, Eva E; Moiola, Cristian Pablo CP; Alonso-Alconada, Lorena L; Ferreirós, Alba A; Abalo, Alicia A; Gil, Carlos López CL; Oltra, Sara S SS; de Santiago, Javier J; Cabrera, Silvia S; Sampayo, Victoria V; Bouso, Marta M; Arias, Efigenia E; Cueva, Juan J; Colas, Eva E; Vilar, Ana A; Gil-Moreno, Antonio A; Abal, Miguel M; Moreno-Bueno, Gema G; Muinelo-Romay, Laura L

Publication Date: 2020-02-21

Variant appearance in text: ATM: 742C>T; Arg248Ter

PubMed Link: 32098121

Variant Present in the following documents:

• jcm-09-00585-s001.pdf

View BVdb publication page

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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: ATM: 742C>T; R248*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ATM: 742C>T; Arg248*; rs730881336

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: ATM: R248*

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 32

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: ATM: 742C>T; Arg248X

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

View BVdb publication page

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Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.

Molecular And Clinical Oncology

Ye, Fanghua F; Chai, Wenwen W; Yang, Minghua M; Xie, Min M; Yang, Liangchun L

Publication Date: 2018-11

Variant appearance in text: ATM: 742C>T; R248X; rs730881336

PubMed Link: 30402232

Variant Present in the following documents:

• Main text
• mco-09-05-0493.pdf

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: ATM: R248*

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 5
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 6
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10

View BVdb publication page

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Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget

Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J

Publication Date: 2018-05-29

Variant appearance in text: ATM: 742C>T; R248*

PubMed Link: 29899868

Variant Present in the following documents:

• oncotarget-09-26417-s005.xlsx, sheet 1

View BVdb publication page

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Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

The Lancet. Oncology

Waszak, Sebastian M SM; Northcott, Paul A PA; Buchhalter, Ivo I; Robinson, Giles W GW; Sutter, Christian C; Groebner, Susanne S; Grund, Kerstin B KB; Brugières, Laurence L; Jones, David T W DTW; Pajtler, Kristian W KW; Morrissy, A Sorana AS; Kool, Marcel M; Sturm, Dominik D; Chavez, Lukas L; Ernst, Aurelie A; Brabetz, Sebastian S; Hain, Michael M; Zichner, Thomas T; Segura-Wang, Maia M; Weischenfeldt, Joachim J; Rausch, Tobias T; Mardin, Balca R BR; Zhou, Xin X; Baciu, Cristina C; Lawerenz, Christian C; Chan, Jennifer A JA; Varlet, Pascale P; Guerrini-Rousseau, Lea L; Fults, Daniel W DW; Grajkowska, Wiesława W; Hauser, Peter P; Jabado, Nada N; Ra, Young-Shin YS; Zitterbart, Karel K; Shringarpure, Suyash S SS; De La Vega, Francisco M FM; Bustamante, Carlos D CD; Ng, Ho-Keung HK; Perry, Arie A; MacDonald, Tobey J TJ; Hernáiz Driever, Pablo P; Bendel, Anne E AE; Bowers, Daniel C DC; McCowage, Geoffrey G; Chintagumpala, Murali M MM; Cohn, Richard R; Hassall, Timothy T; Fleischhack, Gudrun G; Eggen, Tone T; Wesenberg, Finn F; Feychting, Maria M; Lannering, Birgitta B; Schüz, Joachim J; Johansen, Christoffer C; Andersen, Tina V TV; Röösli, Martin M; Kuehni, Claudia E CE; Grotzer, Michael M; Kjaerheim, Kristina K; Monoranu, Camelia M CM; Archer, Tenley C TC; Duke, Elizabeth E; Pomeroy, Scott L SL; Shelagh, Redmond R; Frank, Stephan S; Sumerauer, David D; Scheurlen, Wolfram W; Ryzhova, Marina V MV; Milde, Till T; Kratz, Christian P CP; Samuel, David D; Zhang, Jinghui J; Solomon, David A DA; Marra, Marco M; Eils, Roland R; Bartram, Claus R CR; von Hoff, Katja K; Rutkowski, Stefan S; Ramaswamy, Vijay V; Gilbertson, Richard J RJ; Korshunov, Andrey A; Taylor, Michael D MD; Lichter, Peter P; Malkin, David D; Gajjar, Amar A; Korbel, Jan O JO; Pfister, Stefan M SM

Publication Date: 2018-06

Variant appearance in text: ATM: 742C>T; Arg248Trp

PubMed Link: 29753700

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: ATM: R248*

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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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: ATM: R248*

PubMed Link: 29296220

Variant Present in the following documents:

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

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATM: 742C>T; Arg248Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

Breast Cancer Research And Treatment

Crawford, Beth B; Adams, Sophie B SB; Sittler, Taylor T; van den Akker, Jeroen J; Chan, Salina S; Leitner, Ofri O; Ryan, Lauren L; Gil, Elad E; van 't Veer, Laura L

Publication Date: 2017-06

Variant appearance in text: ATM: 742C>T

PubMed Link: 28281021

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Profile of Chronic Lymphocytic Leukemia in Korea Identified by Targeted Sequencing.

Plos One

Kim, Jung-Ah JA; Hwang, Byungjin B; Park, Si Nae SN; Huh, Sunghoon S; Im, Kyongok K; Choi, Sungbin S; Chung, Hye Yoon HY; Huh, JooRyung J; Seo, Eul-Ju EJ; Lee, Je-Hwan JH; Bang, Duhee D; Lee, Dong Soon DS

Publication Date: 2016

Variant appearance in text: ATM: R248X

PubMed Link: 27959900

Variant Present in the following documents:

• Main text
• pone.0167641.pdf

View BVdb publication page

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Germline mutations in Japanese familial pancreatic cancer patients.

Oncotarget

Takai, Erina E; Yachida, Shinichi S; Shimizu, Kyoko K; Furuse, Junji J; Kubo, Emi E; Ohmoto, Akihiro A; Suzuki, Masami M; Hruban, Ralph H RH; Okusaka, Takuji T; Morizane, Chigusa C; Furukawa, Toru T

Publication Date: 2016-11-08

Variant appearance in text: ATM: Arg248Ter

PubMed Link: 27732944

Variant Present in the following documents:

• Main text

View BVdb publication page

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Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife

Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S

Publication Date: 2016-06-15

Variant appearance in text: ATM: 742C>T; Arg248*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK

Publication Date: 2016-08

Variant appearance in text: ATM: 742C>T; Arg248Ter

PubMed Link: 26681312

Variant Present in the following documents:

View BVdb publication page

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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: ATM: R248*

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

View BVdb publication page

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The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

Oncotarget

Athanasakis, Emmanouil E; Melloni, Elisabetta E; Rigolin, Gian Matteo GM; Agnoletto, Chiara C; Voltan, Rebecca R; Vozzi, Diego D; Piscianz, Elisa E; Segat, Ludovica L; Dal Monego, Simeone S; Cuneo, Antonio A; Secchiero, Paola P; Zauli, Giorgio G

Publication Date: 2014-12-30

Variant appearance in text: ATM: 742C>T; Arg248Trp

PubMed Link: 25587027

Variant Present in the following documents:

• Main text
• oncotarget-05-12635.pdf

View BVdb publication page

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Inherited predisposition to breast cancer among African American women.

Breast Cancer Research And Treatment

Churpek, Jane E JE; Walsh, Tom T; Zheng, Yonglan Y; Moton, Zakiya Z; Thornton, Anne M AM; Lee, Ming K MK; Casadei, Silvia S; Watts, Amanda A; Neistadt, Barbara B; Churpek, Matthew M MM; Huo, Dezheng D; Zvosec, Cecilia C; Liu, Fang F; Niu, Qun Q; Marquez, Rafael R; Zhang, Jing J; Fackenthal, James J; King, Mary-Claire MC; Olopade, Olufunmilayo I OI

Publication Date: 2015-01

Variant appearance in text: ATM: R248X

PubMed Link: 25428789

Variant Present in the following documents:

• Main text
• 10549_2014_Article_3195.pdf

View BVdb publication page

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