Publications:

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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: RAD50: R726H

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: RAD50: R726H; rs28903092

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology

Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO

Publication Date: 2022-12-22

Variant appearance in text: RAD50: 2177G>A; R726H

PubMed Link: 36550560

Variant Present in the following documents:

• 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.

Hgg Advances

Loke, Johnny J; Alim, Ishraq I; Yam, Sarah S; Klugman, Susan S; Xia, Li C LC; Gruber, Dorota D; Tegay, David D; LaBella, Andrea A; Onel, Kenan K; Ostrer, Harry H

Publication Date: 2022-04-14

Variant appearance in text: RAD50: 2177G>A; R726H; rs28903092

PubMed Link: 35146455

Variant Present in the following documents:

• mmc2.xlsx, sheet 1
• mmc4.pdf
• mmc1.pdf

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: RAD50: 2177G>A; R726H; rs28903092

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: RAD50: 2177G>A; R726H; rs28903092

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: RAD50: 2177G>A; Arg726His

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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RAD50 Loss of Function Variants in the Zinc Hook Domain Associated with Higher Risk of Familial Esophageal Squamous Cell Carcinoma.

Cancers

Ko, Josephine Mun Yee JMY; Lam, Shiu Yeung SY; Ning, Lvwen L; Chai, Annie Wai Yeeng AWY; Lei, Lisa Chan LC; Choi, Sheyne Sta Ana SSA; Wong, Carissa Wing Yan CWY; Lung, Maria Li ML

Publication Date: 2021-09-21

Variant appearance in text: RAD50: R726H

PubMed Link: 34572942

Variant Present in the following documents:

• Main text
• cancers-13-04715.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: RAD50: 2177G>A; R726H; rs28903092

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Applied precision medicine in metastatic pancreatic ductal adenocarcinoma.

Therapeutic Advances In Medical Oncology

Taghizadeh, Hossein H; Müllauer, Leonhard L; Mader, Robert M RM; Schindl, Martin M; Prager, Gerald W GW

Publication Date: 2020

Variant appearance in text: RAD50: Arg726His

PubMed Link: 32699558

Variant Present in the following documents:

• Main text
• 10.1177_1758835920938611.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: RAD50: R726H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: RAD50: 2177G>A; Arg726His

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.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: RAD50: 2177G>A; R726H; rs28903092

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: RAD50: R726H; rs28903092

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

View BVdb publication page

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Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: RAD50: 2177G>A; Arg726His; rs28903092

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.

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

Perkins, Bradley A BA; Caskey, C Thomas CT; Brar, Pamila P; Dec, Eric E; Karow, David S DS; Kahn, Andrew M AM; Hou, Ying-Chen Claire YC; Shah, Naisha N; Boeldt, Debbie D; Coughlin, Erin E; Hands, Gabby G; Lavrenko, Victor V; Yu, James J; Procko, Andrea A; Appis, Julia J; Dale, Anders M AM; Guo, Lining L; Jönsson, Thomas J TJ; Wittmann, Bryan M BM; Bartha, Istvan I; Ramakrishnan, Smriti S; Bernal, Axel A; Brewer, James B JB; Brewerton, Suzanne S; Biggs, William H WH; Turpaz, Yaron Y; Venter, J Craig JC

Publication Date: 2018-04-03

Variant appearance in text: RAD50: 2177G>A

PubMed Link: 29555771

Variant Present in the following documents:

• pnas.201706096SI.pdf

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: RAD50: 2177G>A; Arg726His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: RAD50: 2177G>A; R726H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Genetic determinants of anti-malarial acquired immunity in a large multi-centre study.

Malaria Journal

Shelton, Jennifer M G JM; Corran, Patrick P; Risley, Paul P; Silva, Nilupa N; Hubbart, Christina C; Jeffreys, Anna A; Rowlands, Kate K; Craik, Rachel R; Cornelius, Victoria V; Hensmann, Meike M; Molloy, Sile S; Sepulveda, Nuno N; Clark, Taane G TG; Band, Gavin G; Clarke, Geraldine M GM; Spencer, Christopher C A CC; Kerasidou, Angeliki A; Campino, Susana S; Auburn, Sarah S; Tall, Adama A; Ly, Alioune Badara AB; Mercereau-Puijalon, Odile O; Sakuntabhai, Anavaj A; Djimdé, Abdoulaye A; Maiga, Boubacar B; Touré, Ousmane O; Doumbo, Ogobara K OK; Dolo, Amagana A; Troye-Blomberg, Marita M; Mangano, Valentina D VD; Verra, Frederica F; Modiano, David D; Bougouma, Edith E; Sirima, Sodiomon B SB; Ibrahim, Muntaser M; Hussain, Ayman A; Eid, Nahid N; Elzein, Abier A; Mohammed, Hiba H; Elhassan, Ahmed A; Elhassan, Ibrahim I; Williams, Thomas N TN; Ndila, Carolyne C; Macharia, Alexander A; Marsh, Kevin K; Manjurano, Alphaxard A; Reyburn, Hugh H; Lemnge, Martha M; Ishengoma, Deus D; Carter, Richard R; Karunaweera, Nadira N; Fernando, Deepika D; Dewasurendra, Rajika R; Drakeley, Christopher J CJ; Riley, Eleanor M EM; Kwiatkowski, Dominic P DP; Rockett, Kirk A KA; ,

Publication Date: 2015-08-28

Variant appearance in text: rs28903092

PubMed Link: 26314886

Variant Present in the following documents:

• Main text
• 12936_2015_Article_833.pdf

View BVdb publication page

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Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

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

Maxwell, Kara N KN; Wubbenhorst, Bradley B; D'Andrea, Kurt K; Garman, Bradley B; Long, Jessica M JM; Powers, Jacquelyn J; Rathbun, Katherine K; Stopfer, Jill E JE; Zhu, Jiajun J; Bradbury, Angela R AR; Simon, Michael S MS; DeMichele, Angela A; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2015-08

Variant appearance in text: RAD50: R726H; rs28903092

PubMed Link: 25503501

Variant Present in the following documents:

• NIHMS641969-supplement-Supplementary_Table_1.xls, sheet 1

View BVdb publication page

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