Publications:

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BRCA2 Germline Mutations Identify Gastric Cancers Responsive to PARP Inhibitors.

Cancer Research

Petrelli, Annalisa A; Rizzolio, Sabrina S; Pietrantonio, Filippo F; Bellomo, Sara E SE; Benelli, Matteo M; De Cecco, Loris L; Romagnoli, Dario D; Berrino, Enrico E; Orrù, Claudia C; Ribisi, Salvatore S; Moya-Rull, Daniel D; Migliore, Cristina C; Conticelli, Daniela D; Maina, Irene M IM; Puliga, Elisabetta E; Serra, Violeta V; Pellegrino, Benedetta B; Llop-Guevara, Alba A; Musolino, Antonino A; Siena, Salvatore S; Sartore-Bianchi, Andrea A; Prisciandaro, Michele M; Morano, Federica F; Antista, Maria M; Fumagalli, Uberto U; De Manzoni, Giovanni G; Degiuli, Maurizio M; Baiocchi, Gian Luca GL; Amisano, Marco F MF; Ferrero, Alessandro A; Marchiò, Caterina C; Corso, Simona S; Giordano, Silvia S

Publication Date: 2023-05-02

Variant appearance in text: ATM: F763L

PubMed Link: 37129948

Variant Present in the following documents:

• can-22-2620_supplementary_table_s2_suppst2.pdf

View BVdb publication page

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Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants.

Frontiers In Oncology

Gifoni, Ana Carolina Leite Vieira Costa ACLVC; Gifoni, Markus Andret Cavalcante MAC; Wotroba, Camila Martins CM; Palmero, Edenir Inez EI; Costa, Eduardo Leite Vieira ELV; Dos Santos, Wellington W; Achatz, Maria Isabel MI

Publication Date: 2022

Variant appearance in text: ATM: Phe763Leu

PubMed Link: 35957908

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Cancer Research Communications

Magistri, Marco M; Happ, Lanie E LE; Ramdial, Jeremy J; Lu, XiaoQing X; Stathias, Vasileios V; Kunkalla, Kranthi K; Agarwal, Nitin N; Jiang, Xiaoyu X; Schürer, Stephan C SC; Dubovy, Sander R SR; Chapman, Jennifer R JR; Vega, Francisco F; Dave, Sandeep S; Lossos, Izidore S IS

Publication Date: 2021-10

Variant appearance in text: ATM: F763L

PubMed Link: 35528192

Variant Present in the following documents:

• crc-21-0022-s05.xlsx, sheet 1

View BVdb publication page

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DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.

Genome Research

Giacopelli, Brian B; Wang, Min M; Cleary, Ada A; Wu, Yue-Zhong YZ; Schultz, Anna Reister AR; Schmutz, Maximilian M; Blachly, James S JS; Eisfeld, Ann-Kathrin AK; Mundy-Bosse, Bethany B; Vosberg, Sebastian S; Greif, Philipp A PA; Claus, Rainer R; Bullinger, Lars L; Garzon, Ramiro R; Coombes, Kevin R KR; Bloomfield, Clara D CD; Druker, Brian J BJ; Tyner, Jeffrey W JW; Byrd, John C JC; Oakes, Christopher C CC

Publication Date: 2021-05

Variant appearance in text: ATM: Phe763Leu

PubMed Link: 33707228

Variant Present in the following documents:

• supp_gr.269233.120_Supplemental_Tables_S1_S2_S8-11.xlsx, sheet 5

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: F763L

PubMed Link: 32866190

Variant Present in the following documents:

• pone.0238295.s002.xlsx, sheet 1

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: F763L

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

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Phase Ib study evaluating safety and clinical activity of the anti-HER3 antibody lumretuzumab combined with the anti-HER2 antibody pertuzumab and paclitaxel in HER3-positive, HER2-low metastatic breast cancer.

Investigational New Drugs

Schneeweiss, Andreas A; Park-Simon, Tjoung-Won TW; Albanell, Joan J; Lassen, Ulrik U; Cortés, Javier J; Dieras, Veronique V; May, Marcus M; Schindler, Christoph C; Marmé, Frederik F; Cejalvo, Juan Miguel JM; Martinez-Garcia, Maria M; Gonzalez, Iria I; Lopez-Martin, Jose J; Welt, Anja A; Levy, Christelle C; Joly, Florence F; Michielin, Francesca F; Jacob, Wolfgang W; Adessi, Céline C; Moisan, Annie A; Meneses-Lorente, Georgina G; Racek, Tomas T; James, Ian I; Ceppi, Maurizio M; Hasmann, Max M; Weisser, Martin M; Cervantes, Andrés A

Publication Date: 2018-10

Variant appearance in text: ATM: F763L

PubMed Link: 29349598

Variant Present in the following documents:

• 10637_2018_562_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications

Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L

Publication Date: 2015-12-22

Variant appearance in text: ATM: F763L

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s13.xlsx, sheet 1

View BVdb publication page

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