Publications:

---

Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery

Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI

Publication Date: 2023-03-02

Variant appearance in text: RB1: 1147C>T; Q383*; rs1131690846

PubMed Link: 36862804

Variant Present in the following documents:

• cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6

View BVdb publication page

---

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: RB1: 1147C>T; Gln383Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.

Nature Communications

Shukla, N N; Levine, M F MF; Gundem, G G; Domenico, D D; Spitzer, B B; Bouvier, N N; Arango-Ossa, J E JE; Glodzik, D D; Medina-Martínez, J S JS; Bhanot, U U; Gutiérrez-Abril, J J; Zhou, Y Y; Fiala, E E; Stockfisch, E E; Li, S S; Rodriguez-Sanchez, M I MI; O'Donohue, T T; Cobbs, C C; Roehrl, M H A MHA; Benhamida, J J; Iglesias Cardenas, F F; Ortiz, M M; Kinnaman, M M; Roberts, S S; Ladanyi, M M; Modak, S S; Farouk-Sait, S S; Slotkin, E E; Karajannis, M A MA; Dela Cruz, F F; Glade Bender, J J; Zehir, A A; Viale, A A; Walsh, M F MF; Kung, A L AL; Papaemmanuil, E E

Publication Date: 2022-05-18

Variant appearance in text: RB1: 1147C>T; Q383*

PubMed Link: 35585047

Variant Present in the following documents:

• 41467_2022_30233_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: RB1: Q383X

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: RB1: Q383X

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Harms, Paul W PW; Verhaegen, Monique E ME; Hu, Kevin K; Hrycaj, Steven M SM; Chan, May P MP; Liu, Chia-Jen CJ; Grachtchouk, Marina M; Patel, Rajiv M RM; Udager, Aaron M AM; Dlugosz, Andrzej A AA

Publication Date: 2022-04

Variant appearance in text: RB1: Q383X

PubMed Link: 34593967

Variant Present in the following documents:

• NIHMS1739265-supplement-Supplemental_Tables.xlsx, sheet 4

View BVdb publication page

---

The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Risk Management And Healthcare Policy

Xie, Ying Y; Xu, Xiao-Lin XL; Wei, Wen-Bin WB

Publication Date: 2021

Variant appearance in text: RB1: 1147C>T; Q383X

PubMed Link: 34456592

Variant Present in the following documents:

• Main text
• rmhp-14-3453.pdf

View BVdb publication page

---

Molecular profiling of basal cell carcinomas in young patients.

Bmc Medical Genomics

Abi Karam, Marc M; Kourie, Hampig Raphael HR; Jalkh, Nadine N; Mehawej, Cybel C; Kesrouani, Carole C; Haddad, Fady Gh FG; Feghaly, Iman I; Chouery, Eliane E; Tomb, Roland R

Publication Date: 2021-07-20

Variant appearance in text: RB1: 1147C>T; Gln383*

PubMed Link: 34284772

Variant Present in the following documents:

• 12920_2021_1030_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: RB1: Q383*

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7

View BVdb publication page

---

Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: RB1: 1147C>T; Q383*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

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: RB1: Q383*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: RB1: 1147C>T; Q383*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.

Nature Communications

Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J

Publication Date: 2019-06-17

Variant appearance in text: RB1: Q383*

PubMed Link: 31209238

Variant Present in the following documents:

• 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

TYRO3 as a molecular target for growth inhibition and apoptosis induction in bladder cancer.

British Journal Of Cancer

Dufour, Florent F; Silina, Linda L; Neyret-Kahn, Hélène H; Moreno-Vega, Aura A; Krucker, Clémentine C; Karboul, Narjesse N; Dorland-Galliot, Marion M; Maillé, Pascale P; Chapeaublanc, Elodie E; Allory, Yves Y; Stransky, Nicolas N; Haegel, Hélène H; Menguy, Thierry T; Duong, Vanessa V; Radvanyi, François F; Bernard-Pierrot, Isabelle I

Publication Date: 2019-03

Variant appearance in text: RB1: Q383*

PubMed Link: 30765874

Variant Present in the following documents:

• Main text
• 41416_2019_Article_397.pdf

View BVdb publication page

---

Genetic screening in Iranian patients with retinoblastoma.

Eye (London, England)

Shahraki, K K; Ahani, A A; Sharma, P P; Faranoush, M M; Bahoush, G G; Torktaz, I I; Gahl, W A WA; Naseripour, M M; Behnam, B B

Publication Date: 2017-04

Variant appearance in text: RB1: Q383X

PubMed Link: 27983729

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: RB1: 1147C>T; Q383*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

RB1 mutations and second primary malignancies after hereditary retinoblastoma.

Familial Cancer

Dommering, Charlotte J CJ; Marees, Tamara T; van der Hout, Annemarie H AH; Imhof, Saskia M SM; Meijers-Heijboer, Hanne H; Ringens, Peter J PJ; van Leeuwen, Flora E FE; Moll, Annette C AC

Publication Date: 2012-06

Variant appearance in text: RB1: Gln383X

PubMed Link: 22205104

Variant Present in the following documents:

• Main text
• 10689_2011_Article_9505.pdf

View BVdb publication page

---