Publications:

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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: RAD50: 1875C>G; Tyr625Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.

Cancers

Horackova, Klara K; Frankova, Sona S; Zemankova, Petra P; Nehasil, Petr P; Cerna, Marta M; Neroldova, Magdalena M; Otahalova, Barbora B; Kral, Jan J; Hovhannisyan, Milena M; Stranecky, Viktor V; Zima, Tomas T; Safarikova, Marketa M; Kalousova, Marta M; Consortium, Czecanca C; Novotny, Jan J; Sperl, Jan J; Borecka, Marianna M; Jelinkova, Sandra S; Vocka, Michal M; Janatova, Marketa M; Kleiblova, Petra P; Kleibl, Zdenek Z; Jirsa, Milan M; Soukupova, Jana J

Publication Date: 2022-12-29

Variant appearance in text: RAD50: 1875C>G; Tyr625Ter

PubMed Link: 36612198

Variant Present in the following documents:

• cancers-15-00201.pdf

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: RAD50: 1875C>G; Tyr625Ter

PubMed Link: 36493725

Variant Present in the following documents:

• mmc1.xlsx, sheet 8

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: RAD50: Y625*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

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: RAD50: 1875C>G; Tyr625Ter; rs149201802

PubMed Link: 35595529

Variant Present in the following documents:

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

View BVdb publication page

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer

Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T

Publication Date: 2021-12-09

Variant appearance in text: RAD50: 1875C>G; Tyr625Ter

PubMed Link: 34887416

Variant Present in the following documents:

• 41523_2021_360_MOESM1_ESM.pdf

View BVdb publication page

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer

Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T

Publication Date: 2021-12-09

Variant appearance in text: RAD50: 1875C>G; Tyr625Ter

PubMed Link: 34887416

Variant Present in the following documents:

• 41523_2021_360_MOESM1_ESM.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: 1875C>G; Y625X; rs149201802

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

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

Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G

Publication Date: 2020-04

Variant appearance in text: RAD50: 1875C>G; Tyr625*

PubMed Link: 31844177

Variant Present in the following documents:

• 41436_2019_720_MOESM4_ESM.xlsx, sheet 2

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: RAD50: 1875C>G; Tyr625*; rs149201802

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: 1875C>G; Tyr625Ter; rs149201802

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.

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

Yurgelun, Matthew B MB; Chittenden, Anu B AB; Morales-Oyarvide, Vicente V; Rubinson, Douglas A DA; Dunne, Richard F RF; Kozak, Margaret M MM; Qian, Zhi Rong ZR; Welch, Marisa W MW; Brais, Lauren K LK; Da Silva, Annacarolina A; Bui, Justin L JL; Yuan, Chen C; Li, Tingting T; Li, Wanwan W; Masuda, Atsuhiro A; Gu, Mancang M; Bullock, Andrea J AJ; Chang, Daniel T DT; Clancy, Thomas E TE; Linehan, David C DC; Findeis-Hosey, Jennifer J JJ; Doyle, Leona A LA; Thorner, Aaron R AR; Ducar, Matthew D MD; Wollison, Bruce M BM; Khalaf, Natalia N; Perez, Kimberly K; Syngal, Sapna S; Aguirre, Andrew J AJ; Hahn, William C WC; Meyerson, Matthew L ML; Fuchs, Charles S CS; Ogino, Shuji S; Hornick, Jason L JL; Hezel, Aram F AF; Koong, Albert C AC; Nowak, Jonathan A JA; Wolpin, Brian M BM

Publication Date: 2019-01

Variant appearance in text: RAD50: 1875C>G

PubMed Link: 29961768

Variant Present in the following documents:

• Main text

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: 1875C>G; Tyr625Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Multigene testing of moderate-risk genes: be mindful of the missense.

Journal Of Medical Genetics

Young, E L EL; Feng, B J BJ; Stark, A W AW; Damiola, F F; Durand, G G; Forey, N N; Francy, T C TC; Gammon, A A; Kohlmann, W K WK; Kaphingst, K A KA; McKay-Chopin, S S; Nguyen-Dumont, T T; Oliver, J J; Paquette, A M AM; Pertesi, M M; Robinot, N N; Rosenthal, J S JS; Vallee, M M; Voegele, C C; Hopper, J L JL; Southey, M C MC; Andrulis, I L IL; John, E M EM; Hashibe, M M; Gertz, J J; , ; Le Calvez-Kelm, F F; Lesueur, F F; Goldgar, D E DE; Tavtigian, S V SV

Publication Date: 2016-06

Variant appearance in text: RAD50: 1875C>G; Y625X

PubMed Link: 26787654

Variant Present in the following documents:

• jmedgenet-2015-103398-s2.pdf

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: RAD50: Y625*

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s4.xlsx, sheet 1

View BVdb publication page

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Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

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

Pennington, Kathryn P KP; Walsh, Tom T; Harrell, Maria I MI; Lee, Ming K MK; Pennil, Christopher C CC; Rendi, Mara H MH; Thornton, Anne A; Norquist, Barbara M BM; Casadei, Silvia S; Nord, Alexander S AS; Agnew, Kathy J KJ; Pritchard, Colin C CC; Scroggins, Sheena S; Garcia, Rochelle L RL; King, Mary-Claire MC; Swisher, Elizabeth M EM

Publication Date: 2014-02-01

Variant appearance in text: RAD50: Y625X

PubMed Link: 24240112

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: RAD50: Y625X; rs149201802

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s008.xlsx, sheet 1

View BVdb publication page

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