Publications:

---

NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly.

Global Medical Genetics

Pomarino, David D; Emelina, Anna A; Heidrich, Jens J; Rostásy, Kevin K; Schirmer, Svenja S; Schönfeldt, Jan O JO; Thren, Anneke A; Wagner, Ferdinand F; Thren, Johanna Ronja JR; Berger, Nina N

Publication Date: 2023-06

Variant appearance in text: ATM: 8545C>T

PubMed Link: 37091313

Variant Present in the following documents:

• 10-1055-s-0043-57230.pdf

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: ATM: 8545C>T; Arg2849Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass

Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J

Publication Date: 2023-03

Variant appearance in text: ATM: R2849X

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

---

Non-classical phenotypes of mismatch repair deficiency and microsatellite instability in primary and metastatic tumors at different sites in Lynch syndrome.

Frontiers In Oncology

Li, Zhiyu Z; Cheng, Bo B; Liu, Shan S; Ding, Shanshan S; Liu, Jinhong J; Quan, Lanju L; Hao, Yanjiao Y; Xu, Lin L; Zhao, Huan H; Guo, Jing J; Sun, Suozhu S

Publication Date: 2022

Variant appearance in text: ATM: 8545C>T

PubMed Link: 36591511

Variant Present in the following documents:

• Main text
• fonc-12-1004469.pdf

View BVdb publication page

---

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

Frontiers In Oncology

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

Publication Date: 2022

Variant appearance in text: ATM: 8545C>T; R2849*

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

---

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs587778080

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

---

KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs587778080

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

---

The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics.

Nature Communications

Tang, Ming M; Abbas, Hussein A HA; Negrao, Marcelo V MV; Ramineni, Maheshwari M; Hu, Xin X; Hubert, Shawna Marie SM; Fujimoto, Junya J; Reuben, Alexandre A; Varghese, Susan S; Zhang, Jianhua J; Li, Jun J; Chow, Chi-Wan CW; Mao, Xizeng X; Song, Xingzhi X; Lee, Won-Chul WC; Wu, Jia J; Little, Latasha L; Gumbs, Curtis C; Behrens, Carmen C; Moran, Cesar C; Weissferdt, Annikka A; Lee, J Jack JJ; Sepesi, Boris B; Swisher, Stephen S; Cheng, Chao C; Kurie, Jonathan J; Gibbons, Don D; Heymach, John V JV; Wistuba, Ignacio I II; Futreal, P Andrew PA; Kalhor, Neda N; Zhang, Jianjun J

Publication Date: 2021-12-06

Variant appearance in text: ATM: R2849X

PubMed Link: 34873156

Variant Present in the following documents:

• 41467_2021_27341_MOESM1_ESM.pdf
• 41467_2021_27341_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

---

The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics.

Nature Communications

Tang, Ming M; Abbas, Hussein A HA; Negrao, Marcelo V MV; Ramineni, Maheshwari M; Hu, Xin X; Hubert, Shawna Marie SM; Fujimoto, Junya J; Reuben, Alexandre A; Varghese, Susan S; Zhang, Jianhua J; Li, Jun J; Chow, Chi-Wan CW; Mao, Xizeng X; Song, Xingzhi X; Lee, Won-Chul WC; Wu, Jia J; Little, Latasha L; Gumbs, Curtis C; Behrens, Carmen C; Moran, Cesar C; Weissferdt, Annikka A; Lee, J Jack JJ; Sepesi, Boris B; Swisher, Stephen S; Cheng, Chao C; Kurie, Jonathan J; Gibbons, Don D; Heymach, John V JV; Wistuba, Ignacio I II; Futreal, P Andrew PA; Kalhor, Neda N; Zhang, Jianjun J

Publication Date: 2021-12-06

Variant appearance in text: ATM: R2849X

PubMed Link: 34873156

Variant Present in the following documents:

• 41467_2021_27341_MOESM1_ESM.pdf
• 41467_2021_27341_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

---

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine

Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M

Publication Date: 2021-12-02

Variant appearance in text: ATM: 8545C>T; Arg2849Ter

PubMed Link: 34857041

Variant Present in the following documents:

• 13073_2021_978_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

European Urology

Lee, Daniel J DJ; Hausler, Ryan R; Le, Anh N AN; Kelly, Gregory G; Powers, Jacquelyn J; Ding, James J; Feld, Emily E; Desai, Heena H; Morrison, Casey C; Doucette, Abigail A; Gabriel, Peter P; Genetics Center, Regeneron R; Judy, Renae L RL; Weaver, Joellen J; Kember, Rachel R; Damrauer, Scott M SM; Rader, Daniel J DJ; Domchek, Susan M SM; Narayan, Vivek V; Schwartz, Lauren E LE; Maxwell, Kara N KN

Publication Date: 2022-06

Variant appearance in text: ATM: R2849X

PubMed Link: 34711450

Variant Present in the following documents:

• NIHMS1772233-supplement-Supplementary_Tables.xlsx, sheet 3

View BVdb publication page

---

Ceralasertib-Mediated ATR Inhibition Combined With Olaparib in Advanced Cancers Harboring DNA Damage Response and Repair Alterations (Olaparib Combinations).

Jco Precision Oncology

Mahdi, Haider H; Hafez, Navid N; Doroshow, Deborah D; Sohal, Davendra D; Keedy, Vickie V; Do, Khanh T KT; LoRusso, Patricia P; Jürgensmeier, Juliane J; Avedissian, Manuel M; Sklar, Jeffrey J; Glover, Colin C; Felicetti, Brunella B; Dean, Emma E; Mortimer, Peter P; Shapiro, Geoffrey I GI; Eder, Joseph Paul JP

Publication Date: 2021

Variant appearance in text: ATM: R2849*

PubMed Link: 34527850

Variant Present in the following documents:

• po-5-po.20.00439.pdf

View BVdb publication page

---

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: 8545C>T; R2849*

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

---

Family history assessment significantly enhances delivery of precision medicine in the genomics era.

Genome Medicine

Bylstra, Yasmin Y; Lim, Weng Khong WK; Kam, Sylvia S; Tham, Koei Wan KW; Wu, R Ryanne RR; Teo, Jing Xian JX; Davila, Sonia S; Kuan, Jyn Ling JL; Chan, Sock Hoai SH; Bertin, Nicolas N; Yang, Cheng Xi CX; Rozen, Steve S; Teh, Bin Tean BT; Yeo, Khung Keong KK; Cook, Stuart Alexander SA; Jamuar, Saumya Shekhar SS; Ginsburg, Geoffrey S GS; Orlando, Lori A LA; Tan, Patrick P

Publication Date: 2021-01-07

Variant appearance in text: ATM: 8545C>T; R2849X

PubMed Link: 33413596

Variant Present in the following documents:

• Main text
• 13073_2020_Article_819.pdf

View BVdb publication page

---

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: ATM: R2849*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1

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: ATM: 8545C>T; R2849*

PubMed Link: 31925297

Variant Present in the following documents:

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

View BVdb publication page

---

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: ATM: 8545C>T; R2849*

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s022.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: ATM: 8545C>T; R2849*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

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: 8545C>T; Arg2849*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1
• elife-14709-supp1.xlsx, sheet 2

View BVdb publication page

---

Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

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

Seifert, Bryce A BA; O'Daniel, Julianne M JM; Amin, Krunal K; Marchuk, Daniel S DS; Patel, Nirali M NM; Parker, Joel S JS; Hoyle, Alan P AP; Mose, Lisle E LE; Marron, Andrew A; Hayward, Michele C MC; Bizon, Christopher C; Wilhelmsen, Kirk C KC; Evans, James P JP; Earp, H Shelton HS; Sharpless, Norman E NE; Hayes, D Neil DN; Berg, Jonathan S JS

Publication Date: 2016-08-15

Variant appearance in text: ATM: 8545C>T; Arg2849Ter

PubMed Link: 27083775

Variant Present in the following documents:

• Main text

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: ATM: R2849*

PubMed Link: 25326804

Variant Present in the following documents:

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

View BVdb publication page

---

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: ATM: R2849X

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

---