Publications:

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Germline multigene panel testing of patients with endometrial cancer.

Oncology Letters

Kral, Jan J; Jelinkova, Sandra S; Zemankova, Petra P; Vocka, Michal M; Borecka, Marianna M; Cerna, Leona L; Cerna, Marta M; Dostalek, Lukas L; Duskova, Petra P; Foretova, Lenka L; Havranek, Ondrej O; Horackova, Klara K; Hovhannisyan, Milena M; Chvojka, Stepan S; Kalousova, Marta M; Kosarova, Marcela M; Koudova, Monika M; Krutilkova, Vera V; Machackova, Eva E; Nehasil, Petr P; Novotny, Jan J; Otahalova, Barbora B; Puchmajerova, Alena A; Safarikova, Marketa M; Slama, Jiri J; Stranecky, Viktor V; Subrt, Ivan I; Tavandzis, Spiros S; Zikan, Michal M; Zima, Tomas T; Soukupova, Jana J; Kleiblova, Petra P; Kleibl, Zdenek Z; Janatova, Marketa M

Publication Date: 2023-06

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 37153042

Variant Present in the following documents:

• Supplementary_Data.pdf

View BVdb publication page

---

Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.

Frontiers In Pediatrics

Liu, Zhi-Jun ZJ; Wang, Ya-Ling YL; Xu, Yan Y

Publication Date: 2023

Variant appearance in text: ATM: 8147T>C; V2716A

PubMed Link: 37009283

Variant Present in the following documents:

• fped-11-975696.pdf

View BVdb publication page

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Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis.

Cancers

Dal Buono, Arianna A; Poliani, Laura L; Greco, Luana L; Bianchi, Paolo P; Barile, Monica M; Giatti, Valentina V; Bonifacio, Cristiana C; Carrara, Silvia S; Malesci, Alberto A; Laghi, Luigi L

Publication Date: 2023-03-20

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 36980738

Variant Present in the following documents:

• cancers-15-01852.pdf

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: 8147T>C; Val2716Ala; rs587782652

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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: 8147T>C; Val2716Ala

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: V2716A

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

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Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma.

International Journal Of Molecular Sciences

Pastorino, Lorenza L; Dalmasso, Bruna B; Allavena, Eleonora E; Vanni, Irene I; Ugolini, Filippo F; Baroni, Gianna G; Croce, Michela M; Guadagno, Antonio A; Cabiddu, Francesco F; Andreotti, Virginia V; Bruno, William W; Zoppoli, Gabriele G; Ferrando, Lorenzo L; Tanda, Enrica Teresa ET; Spagnolo, Francesco F; Menin, Chiara C; Gangemi, Rosaria R; Massi, Daniela D; Ghiorzo, Paola P

Publication Date: 2022-12-16

Variant appearance in text: ATM: 8147T>C

PubMed Link: 36555667

Variant Present in the following documents:

• ijms-23-16027.pdf

View BVdb publication page

---

Metastatic colorectal cancer treatment response evaluation by ultra-deep sequencing of cell-free DNA and matched white blood cells.

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

van 't Erve, Iris I; Medina, Jamie E JE; Leal, Alessandro A; Papp, Eniko E; Phallen, Jillian J; Adleff, Vilmos V; Chiao, Elaine Jiayuee EJ; Arun, Adith S AS; Bolhuis, Karen K; Simmons, John K JK; Karandikar, Aanavi A; Valkenburg, Kenneth C KC; Sausen, Mark M; Angiuoli, Samuel V SV; Scharpf, Robert B RB; Punt, Cornelis J A CJA; Meijer, Gerrit A GA; Velculescu, Victor E VE; Fijneman, Remond J A RJA

Publication Date: 2022-12-19

Variant appearance in text: ATM: V2716A

PubMed Link: 36534496

Variant Present in the following documents:

• ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx, sheet 7

View BVdb publication page

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Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Ebiomedicine

Bonfiglio, Ferdinando F; Lasorsa, Vito Alessandro VA; Cantalupo, Sueva S; D'Alterio, Giuseppe G; Aievola, Vincenzo V; Boccia, Angelo A; Ardito, Martina M; Furini, Simone S; Renieri, Alessandra A; Morini, Martina M; Stainczyk, Sabine S; Westermann, Frank F; Paolella, Giovanni G; Eva, Alessandra A; Iolascon, Achille A; Capasso, Mario M

Publication Date: 2022-12-06

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 36493725

Variant Present in the following documents:

• mmc1.xlsx, sheet 8

View BVdb publication page

---

Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.

Jco Precision Oncology

Trendowski, Matthew R MR; Sample, Christopher C; Baird, Tara T; Sadeghpour, Azita A; Moon, David D; Ruterbusch, Julie J JJ; Beebe-Dimmer, Jennifer L JL; Cooney, Kathleen A KA

Publication Date: 2022-11

Variant appearance in text: ATM: Val2716Ala

PubMed Link: 36446039

Variant Present in the following documents:

• Main text
• po-6-e2200460.pdf

View BVdb publication page

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Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.

Genome Medicine

Bowling, Kevin M KM; Thompson, Michelle L ML; Kelly, Melissa A MA; Scollon, Sarah S; Slavotinek, Anne M AM; Powell, Bradford C BC; Kirmse, Brian M BM; Hendon, Laura G LG; Brothers, Kyle B KB; Korf, Bruce R BR; Cooper, Gregory M GM; Greally, John M JM; Hurst, Anna C E ACE

Publication Date: 2022-11-21

Variant appearance in text: ATM: Val2716Ala

PubMed Link: 36414972

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1139.pdf
• 13073_2022_1139_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.

European Journal Of Cancer (Oxford, England : 1990)

Langenberg, Karin P S KPS; Meister, Michael T MT; Bakhuizen, Jette J JJ; Boer, Judith M JM; van Eijkelenburg, Natasha K A NKA; Hulleman, Esther E; Ilan, Uri U; Looze, Eleonora J EJ; Dierselhuis, Miranda P MP; van der Lugt, Jasper J; Breunis, Willemijn W; Schild, Linda G LG; Ober, Kimberley K; van Hooff, Sander R SR; Scheijde-Vermeulen, Marijn A MA; Hiemcke-Jiwa, Laura S LS; Flucke, Uta E UE; Kranendonk, Mariette E G MEG; Wesseling, Pieter P; Sonneveld, Edwin E; Punt, Simone S; Boltjes, Arjan A; van Dijk, Freerk F; Verwiel, Eugene T P ETP; Volckmann, Richard R; Hehir-Kwa, Jayne Y JY; Kester, Lennart A LA; Koudijs, Marco M J MMJ; Waanders, Esme E; Holstege, Frank C P FCP; Vormoor, H Josef HJ; Hoving, Eelco W EW; van Noesel, Max M MM; Pieters, Rob R; Kool, Marcel M; Stumpf, Miriam M; Blattner-Johnson, Mirjam M; Balasubramanian, Gnana P GP; Van Tilburg, Cornelis M CM; Jones, Barbara C BC; Jones, David T W DTW; Witt, Olaf O; Pfister, Stefan M SM; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; de Krijger, Ronald R RR; Wijnen, Marc H W MHW; den Boer, Monique L ML; Zwaan, C Michel CM; Kemmeren, Patrick P; Koster, Jan J; Tops, Bastiaan B J BBJ; Goemans, Bianca F BF; Molenaar, Jan J JJ

Publication Date: 2022-11

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 36182817

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

---

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Ebiomedicine

Heddar, Abdelkader A; Ogur, Cagri C; Da Costa, Sabrina S; Braham, Inès I; Billaud-Rist, Line L; Findikli, Necati N; Beneteau, Claire C; Reynaud, Rachel R; Mahmoud, Khaled K; Legrand, Stéphanie S; Marchand, Maud M; Cedrin-Durnerin, Isabelle I; Cantalloube, Adèle A; Peigne, Maeliss M; Bretault, Marion M; Dagher-Hayeck, Benedicte B; Perol, Sandrine S; Droumaguet, Celine C; Cavkaytar, Sabri S; Nicolas-Bonne, Carole C; Elloumi, Hanen H; Khrouf, Mohamed M; Rougier-LeMasle, Charlotte C; Fradin, Melanie M; Le Boette, Elsa E; Luigi, Perrine P; Guerrot, Anne-Marie AM; Ginglinger, Emmanuelle E; Zampa, Amandine A; Fauconnier, Anais A; Auger, Nathalie N; Paris, Françoise F; Brischoux-Boucher, Elise E; Cabrol, Christelle C; Brun, Aurore A; Guyon, Laura L; Berard, Melanie M; Riviere, Axelle A; Gruchy, Nicolas N; Odent, Sylvie S; Gilbert-Dussardier, Brigitte B; Isidor, Bertrand B; Piard, Juliette J; Lambert, Laetitia L; Hamamah, Samir S; Guedj, Anne Marie AM; Brac de la Perriere, Aude A; Fernandez, Hervé H; Raffin-Sanson, Marie-Laure ML; Polak, Michel M; Letur, Hélène H; Epelboin, Sylvie S; Plu-Bureau, Genevieve G; Wołczyński, Sławomir S; Hieronimus, Sylvie S; Aittomaki, Kristiina K; Catteau-Jonard, Sophie S; Misrahi, Micheline M

Publication Date: 2022-10

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 36099812

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

---

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.

Blood Advances

Saygin, Caner C; Roloff, Gregory W GW; Hahn, Christopher N CN; Chhetri, Rakchha R; Gill, Saar I SI; Elmariah, Hany H; Talati, Chetasi C; Nunley, Emma E; Gao, Guimin G; Kim, Aelin A; Bishop, Michael R MR; Kosuri, Satyajit S; Das, Soma S; Singhal, Deepak D; Venugopal, Parvathy P; Homan, Claire Christine CC; Brown, Anna L AL; Scott, Hamish S HS; Hiwase, Devendra K DK; Godley, Lucy A LA

Publication Date: 2022-08-24

Variant appearance in text: ATM: V2716A

PubMed Link: 36001442

Variant Present in the following documents:

• BLOODA_ADV-2022-008172-mmc1.pdf

View BVdb publication page

---

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: 8147T>C; Val2716Ala; rs587782652

PubMed Link: 35938029

Variant Present in the following documents:

• Main text
• fgene-13-881100.pdf

View BVdb publication page

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Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Frontiers In Immunology

Quinn, Jessica J; Modell, Vicki V; Johnson, Britt B; Poll, Sarah S; Aradhya, Swaroop S; Orange, Jordan S JS; Modell, Fred F

Publication Date: 2022

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 35757720

Variant Present in the following documents:

• DataSheet_1.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: 8147T>C; Val2716Ala; rs587782652

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS4.xlsx, sheet 1
• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 3

View BVdb publication page

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Consensus Recommendations for the Clinical Management of Hematological Malignancies in Patients with DNA Double Stranded Break Disorders.

Cancers

Pastorczak, Agata A; Attarbaschi, Andishe A; Bomken, Simon S; Borkhardt, Arndt A; van der Werff Ten Bosch, Jutte J; Elitzur, Sarah S; Gennery, Andrew R AR; Hlavackova, Eva E; Kerekes, Arpád A; Křenová, Zdenka Z; Mlynarski, Wojciech W; Szczepanski, Tomasz T; Wassenberg, Tessa T; Loeffen, Jan J

Publication Date: 2022-04-14

Variant appearance in text: ATM: 8147T>C

PubMed Link: 35454905

Variant Present in the following documents:

• Main text
• cancers-14-02000.pdf

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: 8147T>C; Val2716Ala; rs587782652

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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The natural history of ataxia-telangiectasia (A-T): A systematic review.

Plos One

Petley, Emily E; Yule, Alexander A; Alexander, Shaun S; Ojha, Shalini S; Whitehouse, William P WP

Publication Date: 2022

Variant appearance in text: ATM: 8147T>C

PubMed Link: 35290391

Variant Present in the following documents:

• Main text

View BVdb publication page

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Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.

Scientific Reports

Rawat, Amit A; Tyagi, Rahul R; Chaudhary, Himanshi H; Pandiarajan, Vignesh V; Jindal, Ankur Kumar AK; Suri, Deepti D; Gupta, Anju A; Sharma, Madhubala M; Arora, Kanika K; Bal, Amanjit A; Madaan, Priyanka P; Saini, Lokesh L; Sahu, Jitendra Kumar JK; Ogura, Yumi Y; Kato, Tamaki T; Imai, Kohsuke K; Nonoyama, Shigeaki S; Singh, Surjit S

Publication Date: 2022-03-08

Variant appearance in text: ATM: 8147T>C

PubMed Link: 35260754

Variant Present in the following documents:

• Main text
• 41598_2022_Article_8019.pdf

View BVdb publication page

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Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.

Journal Of Clinical Immunology

Cirillo, Emilia E; Polizzi, Agata A; Soresina, Annarosa A; Prencipe, Rosaria R; Giardino, Giuliana G; Cancrini, Caterina C; Finocchi, Andrea A; Rivalta, Beatrice B; Dellepiane, Rosa M RM; Baselli, Lucia A LA; Montin, Davide D; Trizzino, Antonino A; Consolini, Rita R; Azzari, Chiara C; Ricci, Silvia S; Lodi, Lorenzo L; Quinti, Isabella I; Milito, Cinzia C; Leonardi, Lucia L; Duse, Marzia M; Carrabba, Maria M; Fabio, Giovanna G; Bertolini, Patrizia P; Coccia, Paola P; D'Alba, Irene I; Pession, Andrea A; Conti, Francesca F; Zecca, Marco M; Lunardi, Claudio C; Bianco, Manuela Lo ML; Presti, Santiago S; Sciuto, Laura L; Micheli, Roberto R; Bruzzese, Dario D; Lougaris, Vassilios V; Badolato, Raffaele R; Plebani, Alessandro A; Chessa, Luciana L; Pignata, Claudio C

Publication Date: 2022-05

Variant appearance in text: ATM: 8147T>C

PubMed Link: 35257272

Variant Present in the following documents:

• 10875_2022_Article_1234.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ATM: V2716A; rs587782652

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

---

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Frontiers In Immunology

Moeini Shad, Tannaz T; Yazdani, Reza R; Amirifar, Parisa P; Delavari, Samaneh S; Heidarzadeh Arani, Marzieh M; Mahdaviani, Seyed Alireza SA; Sadeghi-Shabestari, Mahnaz M; Aghamohammadi, Asghar A; Rezaei, Nima N; Abolhassani, Hassan H

Publication Date: 2021

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 35095854

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

---

Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study.

Jco Precision Oncology

Levine, Monica D MD; Pearlman, Rachel R; Hampel, Heather H; Cosgrove, Casey C; Cohn, David D; Chassen, Alexis A; Suarez, Adrian A; Barrington, David A DA; McElroy, Joseph P JP; Waggoner, Steven S; Nakayama, John J; Billingsley, Caroline C; Resnick, Kim K; Andrews, Stephen S; Singh, Sareena S; Jenison, Eric E; Clements, Aine A; Neff, Robert R; Goodfellow, Paul J PJ; ,

Publication Date: 2021-11

Variant appearance in text: ATM: Val2716Ala

PubMed Link: 34994648

Variant Present in the following documents:

• po-5-1588.pdf

View BVdb publication page

---

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Cancers

Putti, Sabrina S; Giovinazzo, Alessandro A; Merolle, Matilde M; Falchetti, Maria Laura ML; Pellegrini, Manuela M

Publication Date: 2021-11-01

Variant appearance in text: ATM: 8147T>C

PubMed Link: 34771661

Variant Present in the following documents:

• Main text
• cancers-13-05498.pdf

View BVdb publication page

---

A combination of PARP and CHK1 inhibitors efficiently antagonizes MYCN-driven tumors.

Oncogene

Di Giulio, Stefano S; Colicchia, Valeria V; Pastorino, Fabio F; Pedretti, Flaminia F; Fabretti, Francesca F; Nicolis di Robilant, Vittoria V; Ramponi, Valentina V; Scafetta, Giorgia G; Moretti, Marta M; Licursi, Valerio V; Belardinilli, Francesca F; Peruzzi, Giovanna G; Infante, Paola P; Goffredo, Bianca Maria BM; Coppa, Anna A; Canettieri, Gianluca G; Bartolazzi, Armando A; Ponzoni, Mirco M; Giannini, Giuseppe G; Petroni, Marialaura M

Publication Date: 2021-10

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 34508175

Variant Present in the following documents:

• Main text
• 41388_2021_Article_2003.pdf

View BVdb publication page

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NGS in Hereditary Ataxia: When Rare Becomes Frequent.

International Journal Of Molecular Sciences

Galatolo, Daniele D; De Michele, Giovanna G; Silvestri, Gabriella G; Leuzzi, Vincenzo V; Casali, Carlo C; Musumeci, Olimpia O; Antenora, Antonella A; Astrea, Guja G; Barghigiani, Melissa M; Battini, Roberta R; Battisti, Carla C; Caputi, Caterina C; Cioffi, Ettore E; De Michele, Giuseppe G; Dotti, Maria Teresa MT; Fico, Tommasina T; Fiorillo, Chiara C; Galosi, Serena S; Lieto, Maria M; Malandrini, Alessandro A; Melone, Marina A B MAB; Mignarri, Andrea A; Natale, Gemma G; Pegoraro, Elena E; Petrucci, Antonio A; Ricca, Ivana I; Riso, Vittorio V; Rossi, Salvatore S; Rubegni, Anna A; Scarlatti, Arianna A; Tinelli, Francesca F; Trovato, Rosanna R; Tedeschi, Gioacchino G; Tessa, Alessandra A; Filla, Alessandro A; Santorelli, Filippo Maria FM

Publication Date: 2021-08-06

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 34445196

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.

Esmo Open

Bono, M M; Fanale, D D; Incorvaia, L L; Cancelliere, D D; Fiorino, A A; Calò, V V; Dimino, A A; Filorizzo, C C; Corsini, L R LR; Brando, C C; Madonia, G G; Cucinella, A A; Scalia, R R; Barraco, N N; Guadagni, F F; Pedone, E E; Badalamenti, G G; Russo, A A; Bazan, V V

Publication Date: 2021-08

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 34371384

Variant Present in the following documents:

• Main text
• main.pdf

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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: 8147T>C; Val2716Ala; rs587782652

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Rare deleterious germline variants and risk of lung cancer.

Npj Precision Oncology

Liu, Yanhong Y; Xia, Jun J; McKay, James J; Tsavachidis, Spiridon S; Xiao, Xiangjun X; Spitz, Margaret R MR; Cheng, Chao C; Byun, Jinyoung J; Hong, Wei W; Li, Yafang Y; Zhu, Dakai D; Song, Zhuoyi Z; Rosenberg, Susan M SM; Scheurer, Michael E ME; Kheradmand, Farrah F; Pikielny, Claudio W CW; Lusk, Christine M CM; Schwartz, Ann G AG; Wistuba, Ignacio I II; Cho, Michael H MH; Silverman, Edwin K EK; Bailey-Wilson, Joan J; Pinney, Susan M SM; Anderson, Marshall M; Kupert, Elena E; Gaba, Colette C; Mandal, Diptasri D; You, Ming M; de Andrade, Mariza M; Yang, Ping P; Liloglou, Triantafillos T; Davies, Michael P A MPA; Lissowska, Jolanta J; Swiatkowska, Beata B; Zaridze, David D; Mukeria, Anush A; Janout, Vladimir V; Holcatova, Ivana I; Mates, Dana D; Stojsic, Jelena J; Scelo, Ghislaine G; Brennan, Paul P; Liu, Geoffrey G; Field, John K JK; Hung, Rayjean J RJ; Christiani, David C DC; Amos, Christopher I CI

Publication Date: 2021-02-16

Variant appearance in text: ATM: V2716A; rs587782652

PubMed Link: 33594163

Variant Present in the following documents:

• Main text
• 41698_2021_Article_146.pdf
• 41698_2021_146_MOESM2_ESM.pdf

View BVdb publication page

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Esai Selvan, Myvizhi M; Zauderer, Marjorie G MG; Rudin, Charles M CM; Jones, Siân S; Mukherjee, Semanti S; Offit, Kenneth K; Onel, Kenan K; Rennert, Gad G; Velculescu, Victor E VE; Lipkin, Steven M SM; Klein, Robert J RJ; Gümüş, Zeynep H ZH

Publication Date: 2020-12

Variant appearance in text: ATM: Val2716Ala; rs587782652

PubMed Link: 32866655

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Cancers

Fanale, Daniele D; Incorvaia, Lorena L; Filorizzo, Clarissa C; Bono, Marco M; Fiorino, Alessia A; Calò, Valentina V; Brando, Chiara C; Corsini, Lidia Rita LR; Barraco, Nadia N; Badalamenti, Giuseppe G; Russo, Antonio A; Bazan, Viviana V

Publication Date: 2020-08-25

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 32854451

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).

Molecular Genetics & Genomic Medicine

Asadollahi, Reza R; Britschgi, Christian C; Joset, Pascal P; Oneda, Beatrice B; Schindler, Detlev D; Meier, Urs R UR; Rauch, Anita A

Publication Date: 2020-10

Variant appearance in text: ATM: Val2716Ala

PubMed Link: 32748564

Variant Present in the following documents:

• Main text
• MGG3-8-e1409.pdf

View BVdb publication page

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Identification of Two Novel Mutations in the ATM Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing.

Current Genomics

Heidari, Masoud M; Soleyman-Nejad, Morteza M; Taskhiri, Mohammad H MH; Shahpouri, Javad J; Isazadeh, Alireza A; Ahangari, Roghayyeh R; Mohamadi, Ali R AR; Ebrahimi, Masoumeh M; Karimi, Hadi H; Bolhassani, Manzar M; Karimi, Zahra Z; Heidari, Mansour M

Publication Date: 2019-11

Variant appearance in text: ATM: 8147T>C

PubMed Link: 32655291

Variant Present in the following documents:

• CG-20-531.pdf

View BVdb publication page

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ATR Inhibition Potentiates PARP Inhibitor Cytotoxicity in High Risk Neuroblastoma Cell Lines by Multiple Mechanisms.

Cancers

Southgate, Harriet E D HED; Chen, Lindi L; Tweddle, Deborah A DA; Curtin, Nicola J NJ

Publication Date: 2020-04-28

Variant appearance in text: ATM: V2716A

PubMed Link: 32354033

Variant Present in the following documents:

• Main text

View BVdb publication page

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Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.

Geburtshilfe Und Frauenheilkunde

Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A

Publication Date: 2020-04

Variant appearance in text: ATM: Val2716Ala

PubMed Link: 32322110

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: ATM: 8147T>C

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_Article_15461.pdf

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

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

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 1

View BVdb publication page

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Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.

Frontiers In Neurology

Pogoda, Michaela M; Hilke, Franz-Joachim FJ; Lohmann, Ebba E; Sturm, Marc M; Lenz, Florian F; Matthes, Jakob J; Muyas, Francesc F; Ossowski, Stephan S; Hoischen, Alexander A; Faust, Ulrike U; Sepahi, Ilnaz I; Casadei, Nicolas N; Poths, Sven S; Riess, Olaf O; Schroeder, Christopher C; Grundmann, Kathrin K

Publication Date: 2019

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 31920950

Variant Present in the following documents:

• Main text

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: 8147T>C; Val2716Ala; rs587782652

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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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: 8147T>C; V2716A

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice

Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S

Publication Date: 2019

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 30680046

Variant Present in the following documents:

• 13053_2018_102_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: ATM: V2716A

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Annals Of Neurology

Schon, Katherine K; van Os, Nienke J H NJH; Oscroft, Nicholas N; Baxendale, Helen H; Scoffings, Daniel D; Ray, Julian J; Suri, Mohnish M; Whitehouse, William P WP; Mehta, Puja R PR; Everett, Natasha N; Bottolo, Leonardo L; van de Warrenburg, Bart P BP; Byrd, Philip J PJ; Weemaes, Corry C; Willemsen, Michel A MA; Tischkowitz, Marc M; Taylor, A Malcolm AM; Hensiek, Anke E AE

Publication Date: 2019-02

Variant appearance in text: ATM: Val2716Ala

PubMed Link: 30549301

Variant Present in the following documents:

• Main text
• ANA-85-170-s001.pdf
• ANA-85-170.pdf

View BVdb publication page

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Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

International Journal Of Cancer

Girard, Elodie E; Eon-Marchais, Séverine S; Olaso, Robert R; Renault, Anne-Laure AL; Damiola, Francesca F; Dondon, Marie-Gabrielle MG; Barjhoux, Laure L; Goidin, Didier D; Meyer, Vincent V; Le Gal, Dorothée D; Beauvallet, Juana J; Mebirouk, Noura N; Lonjou, Christine C; Coignard, Juliette J; Marcou, Morgane M; Cavaciuti, Eve E; Baulard, Céline C; Bihoreau, Marie-Thérèse MT; Cohen-Haguenauer, Odile O; Leroux, Dominique D; Penet, Clotilde C; Fert-Ferrer, Sandra S; Colas, Chrystelle C; Frebourg, Thierry T; Eisinger, François F; Adenis, Claude C; Fajac, Anne A; Gladieff, Laurence L; Tinat, Julie J; Floquet, Anne A; Chiesa, Jean J; Giraud, Sophie S; Mortemousque, Isabelle I; Soubrier, Florent F; Audebert-Bellanger, Séverine S; Limacher, Jean-Marc JM; Lasset, Christine C; Lejeune-Dumoulin, Sophie S; Dreyfus, Hélène H; Bignon, Yves-Jean YJ; Longy, Michel M; Pujol, Pascal P; Venat-Bouvet, Laurence L; Bonadona, Valérie V; Berthet, Pascaline P; Luporsi, Elisabeth E; Maugard, Christine M CM; Noguès, Catherine C; Delnatte, Capucine C; Fricker, Jean-Pierre JP; Gesta, Paul P; Faivre, Laurence L; Lortholary, Alain A; Buecher, Bruno B; Caron, Olivier O; Gauthier-Villars, Marion M; Coupier, Isabelle I; Servant, Nicolas N; Boland, Anne A; Mazoyer, Sylvie S; Deleuze, Jean-François JF; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F

Publication Date: 2019-04-15

Variant appearance in text: ATM: 8147T>C; V2716A

PubMed Link: 30303537

Variant Present in the following documents:

View BVdb publication page

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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

American Journal Of Human Genetics

Whitworth, James J; Smith, Philip S PS; Martin, Jose-Ezequiel JE; West, Hannah H; Luchetti, Andrea A; Rodger, Faye F; Clark, Graeme G; Carss, Keren K; Stephens, Jonathan J; Stirrups, Kathleen K; Penkett, Chris C; Mapeta, Rutendo R; Ashford, Sofie S; Megy, Karyn K; Shakeel, Hassan H; Ahmed, Munaza M; Adlard, Julian J; Barwell, Julian J; Brewer, Carole C; Casey, Ruth T RT; Armstrong, Ruth R; Cole, Trevor T; Evans, Dafydd Gareth DG; Fostira, Florentia F; Greenhalgh, Lynn L; Hanson, Helen H; Henderson, Alex A; Hoffman, Jonathan J; Izatt, Louise L; Kumar, Ajith A; Kwong, Ava A; Lalloo, Fiona F; Ong, Kai Ren KR; Paterson, Joan J; Park, Soo-Mi SM; Chen-Shtoyerman, Rakefet R; Searle, Claire C; Side, Lucy L; Skytte, Anne-Bine AB; Snape, Katie K; Woodward, Emma R ER; , ; Tischkowitz, Marc D MD; Maher, Eamonn R ER

Publication Date: 2018-07-05

Variant appearance in text: ATM: 8147T>C; Val2716Ala

PubMed Link: 29909963

Variant Present in the following documents:

• Main text
• mmc6.xlsx, sheet 1
• mmc7.pdf
• main.pdf

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: ATM: V2716A

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s008.xlsx, sheet 1

View BVdb publication page

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