Publications:

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Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications

Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA

Publication Date: 2022-05-03

Variant appearance in text: RB1: Pro20Leu; rs587778637

PubMed Link: 35504881

Variant Present in the following documents:

• 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: RB1: 59C>T

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: RB1: P20L

PubMed Link: 34797250

Variant Present in the following documents:

• ct9-12-e00431-s005.xlsx, sheet 1
• ct9-12-e00431-s006.xlsx, sheet 1

View BVdb publication page

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TERT promoter mutation and chromosome 6 loss define a high-risk subtype of ependymoma evolving from posterior fossa subependymoma.

Acta Neuropathologica

Thomas, Christian C; Thierfelder, Felix F; Träger, Malte M; Soschinski, Patrick P; Müther, Michael M; Edelmann, Dominic D; Förster, Alexandra A; Geiler, Carola C; Kim, Hee-Yeong HY; Filipski, Katharina K; Harter, Patrick N PN; Schittenhelm, Jens J; Eckert, Franziska F; Ntoulias, Georgios G; May, Sven-Axel SA; Stummer, Walter W; Onken, Julia J; Vajkoczy, Peter P; Schüller, Ulrich U; Heppner, Frank L FL; Capper, David D; Koch, Arend A; Kaul, David D; Paulus, Werner W; Hasselblatt, Martin M; Schweizer, Leonille L

Publication Date: 2021-06

Variant appearance in text: RB1: P20L

PubMed Link: 33755803

Variant Present in the following documents:

• 401_2021_2300_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Long-term culture, genetic manipulation and xenotransplantation of human normal and breast cancer organoids.

Nature Protocols

Dekkers, Johanna F JF; van Vliet, Esmée J EJ; Sachs, Norman N; Rosenbluth, Jennifer M JM; Kopper, Oded O; Rebel, Heggert G HG; Wehrens, Ellen J EJ; Piani, Carol C; Visvader, Jane E JE; Verissimo, Carla S CS; Boj, Sylvia F SF; Brugge, Joan S JS; Clevers, Hans H; Rios, Anne C AC

Publication Date: 2021-04

Variant appearance in text: RB1: P20L

PubMed Link: 33692550

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: RB1: 59C>T; P20L

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Nature Communications

Vandekerkhove, Gillian G; Lavoie, Jean-Michel JM; Annala, Matti M; Murtha, Andrew J AJ; Sundahl, Nora N; Walz, Simon S; Sano, Takeshi T; Taavitsainen, Sinja S; Ritch, Elie E; Fazli, Ladan L; Hurtado-Coll, Antonio A; Wang, Gang G; Nykter, Matti M; Black, Peter C PC; Todenhöfer, Tilman T; Ost, Piet P; Gibb, Ewan A EA; Chi, Kim N KN; Eigl, Bernhard J BJ; Wyatt, Alexander W AW

Publication Date: 2021-01-08

Variant appearance in text: RB1: P20L

PubMed Link: 33420073

Variant Present in the following documents:

• 41467_2020_20493_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.

Scientific Reports

Chirita-Emandi, Adela A; Andreescu, Nicoleta N; Zimbru, Cristian G CG; Tutac, Paul P; Arghirescu, Smaranda S; Serban, Margit M; Puiu, Maria M

Publication Date: 2020-01-14

Variant appearance in text: OSRC: 59C>T; rs587778637

PubMed Link: 31937788

Variant Present in the following documents:

• 41598_2019_57080_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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HPV16 E7 Genetic Conservation Is Critical to Carcinogenesis.

Cell

Mirabello, Lisa L; Yeager, Meredith M; Yu, Kai K; Clifford, Gary M GM; Xiao, Yanzi Y; Zhu, Bin B; Cullen, Michael M; Boland, Joseph F JF; Wentzensen, Nicolas N; Nelson, Chase W CW; Raine-Bennett, Tina T; Chen, Zigui Z; Bass, Sara S; Song, Lei L; Yang, Qi Q; Steinberg, Mia M; Burdett, Laurie L; Dean, Michael M; Roberson, David D; Mitchell, Jason J; Lorey, Thomas T; Franceschi, Silvia S; Castle, Philip E PE; Walker, Joan J; Zuna, Rosemary R; Kreimer, Aimée R AR; Beachler, Daniel C DC; Hildesheim, Allan A; Gonzalez, Paula P; Porras, Carolina C; Burk, Robert D RD; Schiffman, Mark M

Publication Date: 2017-09-07

Variant appearance in text: RB1: P20L

PubMed Link: 28886384

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: RB1: P20L

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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