Publications:

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A nomogram based on genotypic and clinicopathologic factors to predict the non-sentinel lymph node metastasis in Chinese women breast cancer patients.

Frontiers In Oncology

Zhu, Liling L; Liu, Ke K; Bao, Baoshi B; Li, Fengyun F; Liang, Wentao W; Jiang, Zhaoyun Z; Hao, Xiaopeng X; Wang, Jiandong J

Publication Date: 2023

Variant appearance in text: rs4986761

PubMed Link: 37152050

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Targeting FGFR Pathway Is Not an Effective Therapeutic Strategy in Patients with Unselected Metastatic Esophagogastric Cancer Resistant to Trastuzumab.

Journal Of Personalized Medicine

Zecchetto, Camilla C; Quinzii, Alberto A; Casalino, Simona S; Gaule, Marina M; Pesoni, Camilla C; Merz, Valeria V; Pietrobono, Silvia S; Mangiameli, Domenico D; Pasquato, Martina M; Milleri, Stefano S; Giacopuzzi, Simone S; Bencivenga, Maria M; Tomezzoli, Anna A; de Manzoni, Giovanni G; Melisi, Davide D

Publication Date: 2023-03-11

Variant appearance in text: ATM: 2119T>C

PubMed Link: 36983691

Variant Present in the following documents:

• jpm-13-00508.pdf

View BVdb publication page

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Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications

Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J

Publication Date: 2022-10

Variant appearance in text: ATM: 2119T>C; S707P

PubMed Link: 36969747

Variant Present in the following documents:

• crc-22-0258-s08.xlsx, sheet 1

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

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

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: ATM: S707P

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Whole-genome sequencing of 20 cholangiocarcinoma cases reveals unique profiles in patients with cirrhosis and primary sclerosing cholangitis.

Journal Of Gastrointestinal Oncology

Holzapfel, Nicholas N; Zhang, Amy A; Choi, Woo-Jin WJ; Denroche, Robert R; Jang, Gunho G; Dodd, Anna A; Bucur, Roxana R; Wilson, Julie J; Sapisochin, Gonzalo G; Notta, Faiyaz F; Grant, Robert C RC; Gallinger, Steven S; Knox, Jennifer J JJ; O'Kane, Grainne M GM

Publication Date: 2023-02-28

Variant appearance in text: ATM: S707P; rs4986761

PubMed Link: 36915452

Variant Present in the following documents:

• jgo-14-01-379-supplementary.pdf

View BVdb publication page

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: ATM: S707P

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Coincidence of primary adrenocortical carcinoma and melanoma: three CASE reports.

Bmc Endocrine Disorders

Ko, Ye Lynn YL; Kumar, Vaishnavi V; Lippert, Juliane J; Diaz-Cano, Salvador S; Skordilis, Kassiani K; Kimpel, Otilia O; Kircher, Stefan S; Asia, Miriam M; Elhassan, Yasir S YS; Altieri, Barbara B; Ronchi, Cristina L CL

Publication Date: 2023-01-06

Variant appearance in text: ATM: 2119T>C; Ser707Pro

PubMed Link: 36604647

Variant Present in the following documents:

• Main text
• 12902_2022_Article_1253.pdf

View BVdb publication page

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Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.

Frontiers In Immunology

Tabansky, Inna I; Tanaka, Akemi J AJ; Wang, Jiayao J; Zhang, Guanglan G; Dujmovic, Irena I; Mader, Simone S; Jeganathan, Venkatesh V; DeAngelis, Tracey T; Funaro, Michael M; Harel, Asaff A; Messina, Mark M; Shabbir, Maya M; Nursey, Vishaan V; DeGouvia, William W; Laurent, Micheline M; Blitz, Karen K; Jindra, Peter P; Gudesblatt, Mark M; , ; King, Alejandra A; Drulovic, Jelena J; Yunis, Edmond E; Brusic, Vladimir V; Shen, Yufeng Y; Keskin, Derin B DB; Najjar, Souhel S; Stern, Joel N H JNH

Publication Date: 2022

Variant appearance in text: ATM: S707P

PubMed Link: 36268024

Variant Present in the following documents:

• Table_1.xlsx, sheet 3

View BVdb publication page

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Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A

Publication Date: 2022-11

Variant appearance in text: ATM: 2119T>C; Ser707Pro

PubMed Link: 35697931

Variant Present in the following documents:

• 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Genetic susceptibility to hereditary non-medullary thyroid cancer.

Hereditary Cancer In Clinical Practice

Kamani, Tina T; Charkhchi, Parsa P; Zahedi, Afshan A; Akbari, Mohammad R MR

Publication Date: 2022-03-07

Variant appearance in text: ATM: Ser707Pro

PubMed Link: 35255942

Variant Present in the following documents:

• Main text
• 13053_2022_Article_215.pdf

View BVdb publication page

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Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

International Journal Of Molecular Sciences

Guglielmi, Chiara C; Scarpitta, Rosa R; Gambino, Gaetana G; Conti, Eleonora E; Bellè, Francesca F; Tancredi, Mariella M; Cervelli, Tiziana T; Falaschi, Elisabetta E; Cosini, Cinzia C; Aretini, Paolo P; Congregati, Caterina C; Marino, Marco M; Patruno, Margherita M; Pilato, Brunella B; Spina, Francesca F; Balestrino, Luisa L; Tenedini, Elena E; Carnevali, Ileana I; Cortesi, Laura L; Tagliafico, Enrico E; Tibiletti, Maria Grazia MG; Tommasi, Stefania S; Ghilli, Matteo M; Vivanet, Caterina C; Galli, Alvaro A; Caligo, Maria Adelaide MA

Publication Date: 2021-07-19

Variant appearance in text: ATM: 2119T>C; Ser707Pro; rs4986761

PubMed Link: 34299313

Variant Present in the following documents:

• Main text
• ijms-22-07693.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: 2119T>C; Ser707Pro; rs4986761

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Leukemia

Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di Rorà, Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G

Publication Date: 2021-10

Variant appearance in text: ATM: S707P; rs4986761

PubMed Link: 34193978

Variant Present in the following documents:

• 41375_2021_1318_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Teerlink, Craig C CC; Miller, Justin B JB; Vance, Elizabeth L EL; Staley, Lyndsay A LA; Stevens, Jeffrey J; Tavana, Justina P JP; Cloward, Matthew E ME; Page, Madeline L ML; Dayton, Louisa L; , ; Cannon-Albright, Lisa A LA; Kauwe, John S K JSK

Publication Date: 2022-02

Variant appearance in text: ATM: S707P

PubMed Link: 34151536

Variant Present in the following documents:

• ALZ-18-307-s002.xlsx, sheet 3
• ALZ-18-307-s002.xlsx, sheet 1
• ALZ-18-307-s002.xlsx, sheet 2

View BVdb publication page

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The ATM Gene in Breast Cancer: Its Relevance in Clinical Practice.

Genes

Stucci, Luigia Stefania LS; Internò, Valeria V; Tucci, Marco M; Perrone, Martina M; Mannavola, Francesco F; Palmirotta, Raffaele R; Porta, Camillo C

Publication Date: 2021-05-13

Variant appearance in text: ATM: S707P

PubMed Link: 34068084

Variant Present in the following documents:

• Main text
• genes-12-00727.pdf

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: ATM: 2119T>C; Ser707Pro; rs4986761

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: ATM: 2119T>C; Ser707Pro; rs4986761

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: ATM: 2119T>C; Ser707Pro

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 7

View BVdb publication page

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

Scientific Reports

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

Publication Date: 2021-03-05

Variant appearance in text: ATM: 2119T>C; Ser707Pro; rs4986761

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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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: ATM: S707P

PubMed Link: 33556149

Variant Present in the following documents:

• pone.0246048.s008.xlsx, sheet 1

View BVdb publication page

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The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis.

Bmc Cancer

Moslemi, Masoumeh M; Moradi, Yousef Y; Dehghanbanadaki, Hojat H; Afkhami, Hamed H; Khaledi, Mansoor M; Sedighimehr, Najmeh N; Fathi, Javad J; Sohrabi, Ehsan E

Publication Date: 2021-01-05

Variant appearance in text: ATM: Ser707Pro

PubMed Link: 33402103

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7749.pdf

View BVdb publication page

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Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.

Genes

Miasaki, Fabíola Yukiko FY; Fuziwara, Cesar Seigi CS; Carvalho, Gisah Amaral de GA; Kimura, Edna Teruko ET

Publication Date: 2020-11-18

Variant appearance in text: ATM: 2119T>C; S707P; rs4986761

PubMed Link: 33218058

Variant Present in the following documents:

• Main text
• genes-11-01364.pdf

View BVdb publication page

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Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Plos Medicine

Zivanovic Bujak, Andjelija A; Weng, Chen-Fang CF; Silva, Maria João MJ; Yeung, Miriam M; Lo, Louisa L; Ftouni, Sarah S; Litchfield, Cassandra C; Ko, Yi-An YA; Kuykhoven, Keilly K; Van Geelen, Courtney C; Chandrashekar, Sushma S; Dawson, Mark A MA; Loi, Sherene S; Wong, Stephen Q SQ; Dawson, Sarah-Jane SJ

Publication Date: 2020-10

Variant appearance in text: ATM: S707P

PubMed Link: 33001984

Variant Present in the following documents:

• pmed.1003363.s013.xlsx, sheet 1

View BVdb publication page

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Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Plos One

Bishop, Madison R MR; Omeler-Fenaud, Sophonie M SM; Huskey, Anna L W ALW; Merner, Nancy D ND

Publication Date: 2020

Variant appearance in text: ATM: S707P

PubMed Link: 32866190

Variant Present in the following documents:

• pone.0238295.s002.xlsx, sheet 1

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: ATM: 2119T>C; S707P; rs4986761

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1

View BVdb publication page

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Stable expansion of high-grade serous ovarian cancer organoids requires a low-Wnt environment.

The Embo Journal

Hoffmann, Karen K; Berger, Hilmar H; Kulbe, Hagen H; Thillainadarasan, Sukanija S; Mollenkopf, Hans-Joachim HJ; Zemojtel, Tomasz T; Taube, Eliane E; Darb-Esfahani, Silvia S; Mangler, Mandy M; Sehouli, Jalid J; Chekerov, Radoslav R; Braicu, Elena I EI; Meyer, Thomas F TF; Kessler, Mirjana M

Publication Date: 2020-03-16

Variant appearance in text: ATM: 2119T>C

PubMed Link: 32009247

Variant Present in the following documents:

• EMBJ-39-e104013-s006.xlsx, sheet 1

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: ATM: 2119T>C; S707P; rs4986761

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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ATM Dysfunction in Pancreatic Adenocarcinoma and Associated Therapeutic Implications.

Molecular Cancer Therapeutics

Armstrong, Samantha A SA; Schultz, Christopher W CW; Azimi-Sadjadi, Ariana A; Brody, Jonathan R JR; Pishvaian, Michael J MJ

Publication Date: 2019-11

Variant appearance in text: ATM: S707P

PubMed Link: 31676541

Variant Present in the following documents:

• Main text

View BVdb publication page

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NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation.

Acta Neuropathologica

Yu, Yanan Y; Choi, Kwangmin K; Wu, Jianqiang J; Andreassen, Paul R PR; Dexheimer, Phillip J PJ; Keddache, Mehdi M; Brems, Hilde H; Spinner, Robert J RJ; Cancelas, Jose A JA; Martin, Lisa J LJ; Wallace, Margaret R MR; Legius, Eric E; Vogel, Kristine S KS; Ratner, Nancy N

Publication Date: 2020-01

Variant appearance in text: ATM: S707P

PubMed Link: 31664505

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Genes

Urbina-Jara, Laura Keren LK; Rojas-Martinez, Augusto A; Martinez-Ledesma, Emmanuel E; Aguilar, Dione D; Villarreal-Garza, Cynthia C; Ortiz-Lopez, Rocio R

Publication Date: 2019-10-10

Variant appearance in text: ATM: 2119T>C; rs4986761

PubMed Link: 31658756

Variant Present in the following documents:

• Main text
• genes-10-00786.pdf

View BVdb publication page

---

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: ATM: 2119T>C; S707P

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One

Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND

Publication Date: 2019

Variant appearance in text: ATM: 2119T>C; S707P

PubMed Link: 31415627

Variant Present in the following documents:

• Main text
• pone.0220929.pdf

View BVdb publication page

---

Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer

Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-05

Variant appearance in text: ATM: 2119T>C; Ser707Pro

PubMed Link: 31382929

Variant Present in the following documents:

• 12885_2019_5984_MOESM1_ESM.pdf

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ATM: 2119T>C; Ser707Pro

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: ATM: S707P

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

---

ATM in breast and brain tumors: a comprehensive review.

Cancer Biology & Medicine

Estiar, Mehrdad Asghari MA; Mehdipour, Parvin P

Publication Date: 2018-08

Variant appearance in text: ATM: Ser707Pro

PubMed Link: 30197789

Variant Present in the following documents:

• Main text
• cbm-15-3-210.pdf

View BVdb publication page

---

appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: ATM: 2119T>C; Ser707Pro; rs4986761

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 3

View BVdb publication page

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Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics

Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E

Publication Date: 2018-02-20

Variant appearance in text: ATM: S707P; rs4986761

PubMed Link: 29458332

Variant Present in the following documents:

• Main text
• 12881_2018_Article_533.pdf

View BVdb publication page

---

Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions.

Nature Communications

Dalin, Martin G MG; Katabi, Nora N; Persson, Marta M; Lee, Ken-Wing KW; Makarov, Vladimir V; Desrichard, Alexis A; Walsh, Logan A LA; West, Lyndsay L; Nadeem, Zaineb Z; Ramaswami, Deepa D; Havel, Jonathan J JJ; Kuo, Fengshen F; Chadalavada, Kalyani K; Nanjangud, Gouri J GJ; Ganly, Ian I; Riaz, Nadeem N; Ho, Alan L AL; Antonescu, Cristina R CR; Ghossein, Ronald R; Stenman, Göran G; Chan, Timothy A TA; Morris, Luc G T LGT

Publication Date: 2017-10-30

Variant appearance in text: ATM: 2119T>C; Ser707Pro

PubMed Link: 29084941

Variant Present in the following documents:

• 41467_2017_1178_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A novel molecular diagnostics platform for somatic and germline precision oncology.

Molecular Genetics & Genomic Medicine

Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J

Publication Date: 2017-07

Variant appearance in text: ATM: 2119T>C; S707P

PubMed Link: 28717660

Variant Present in the following documents:

• Main text
• MGG3-5-336.pdf

View BVdb publication page

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Bioinformatory-assisted analysis of next-generation sequencing data for precision medicine in pancreatic cancer.

Molecular Oncology

Malgerud, Linnéa L; Lindberg, Johan J; Wirta, Valtteri V; Gustafsson-Liljefors, Maria M; Karimi, Masoud M; Moro, Carlos Fernández CF; Stecker, Katrin K; Picker, Alexander A; Huelsewig, Carolin C; Stein, Martin M; Bohnert, Regina R; Del Chiaro, Marco M; Haas, Stephan L SL; Heuchel, Rainer L RL; Permert, Johan J; Maeurer, Markus J MJ; Brock, Stephan S; Verbeke, Caroline S CS; Engstrand, Lars L; Jackson, David B DB; Grönberg, Henrik H; Löhr, Johannes Matthias JM

Publication Date: 2017-10

Variant appearance in text: ATM: S707P; rs4986761

PubMed Link: 28675654

Variant Present in the following documents:

• MOL2-11-1413-s002.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: 2119T>C; Ser707Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation sequencing in familial breast cancer patients from Lebanon.

Bmc Medical Genomics

Jalkh, Nadine N; Chouery, Eliane E; Haidar, Zahraa Z; Khater, Christina C; Atallah, David D; Ali, Hamad H; Marafie, Makia J MJ; Al-Mulla, Mohamed R MR; Al-Mulla, Fahd F; Megarbane, Andre A

Publication Date: 2017-02-15

Variant appearance in text: ATM: S707P

PubMed Link: 28202063

Variant Present in the following documents:

• Main text
• 12920_2017_Article_244.pdf

View BVdb publication page

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Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Plos One

Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM

Publication Date: 2017

Variant appearance in text: ATM: S707P; rs4986761

PubMed Link: 28076423

Variant Present in the following documents:

• pone.0167581.s001.xlsx, sheet 1

View BVdb publication page

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Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants.

Oncotarget

Zhao, Yuguang Y; Yang, Lei L; Wu, Di D; He, Hua H; Wang, Mengmeng M; Ge, Tingwen T; Liu, Yudi Y; Tian, Huimin H; Cui, Jiuwei J; Jia, Lin L; Wan, Ziqiang Z; Han, Fujun F

Publication Date: 2016-11-22

Variant appearance in text: rs4986761

PubMed Link: 27764772

Variant Present in the following documents:

• Main text
• oncotarget-07-76867.pdf

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: ATM: 2119T>C; S707P; rs4986761

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s3.xlsx, sheet 1
• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: ATM: 2119T>C; S707P; rs4986761

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Bmc Medical Genomics

Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK

Publication Date: 2016-04-11

Variant appearance in text: ATM: 2119T>C; Ser707Pro; rs4986761

PubMed Link: 27067391

Variant Present in the following documents:

• 12920_2016_178_MOESM12_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM14_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: ATM: S707P; rs4986761

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ATM: S707P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: ATM: S707P; rs4986761

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 10

View BVdb publication page

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ATM gene mutations in sporadic breast cancer patients from Brazil.

Springerplus

Mangone, Flavia Rotea FR; Miracca, Elisabete C EC; Feilotter, Harriet E HE; Mulligan, Lois M LM; Nagai, Maria Aparecida MA

Publication Date: 2015

Variant appearance in text: ATM: 2119T>C; S707P

PubMed Link: 25625042

Variant Present in the following documents:

• 40064_2015_Article_787.pdf

View BVdb publication page

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