RB1 c.861G>T ;(p.E287D)

Variant ID: 13-48937093-G-T

NM_000321.2(RB1):c.861G>T;(p.E287D)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Dynamics of Sequence and Structural Cell-Free DNA Landscapes in Small-Cell Lung Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Sivapalan, Lavanya L; Iams, Wade T WT; Belcaid, Zineb Z; Scott, Susan C SC; Niknafs, Noushin N; Balan, Archana A; White, James R JR; Kopparapu, Prasad P; Cann, Christopher C; Landon, Blair V BV; Pereira, Gavin G; Velculescu, Victor E VE; Hann, Christine L CL; Lovly, Christine M CM; Anagnostou, Valsamo V
Publication Date: 2023-04-18

Variant appearance in text: RB1: E287D
PubMed Link: 37071497
Variant Present in the following documents:
  • ccr-22-2242_ts1-9_suppts1-9.xlsx, sheet 6
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: RB1: E287D
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: RB1: E287D
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Comprehensive genetic analysis of histological components of combined small cell carcinoma.

Thoracic Cancer
Iida, Yuko Y; Nakanishi, Yoko Y; Shimizu, Tetsuo T; Nomoto, Masayuki M; Nakagawa, Yoshiko Y; Ito, Reiko R; Takahashi, Noriaki N; Masuda, Shinobu S; Gon, Yasuhiro Y
Publication Date: 2022-08

Variant appearance in text: RB1: 861G>T; Glu287Asp
PubMed Link: 35815661
Variant Present in the following documents:
  • Main text
  • TCA-13-2362.pdf
View BVdb publication page



Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: RB1: 861G>T; E287D
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.

Nature Communications
Wagner, Alex H AH; Devarakonda, Siddhartha S; Skidmore, Zachary L ZL; Krysiak, Kilannin K; Ramu, Avinash A; Trani, Lee L; Kunisaki, Jason J; Masood, Ashiq A; Waqar, Saiama N SN; Spies, Nicholas C NC; Morgensztern, Daniel D; Waligorski, Jason J; Ponce, Jennifer J; Fulton, Robert S RS; Maggi, Leonard B LB; Weber, Jason D JD; Watson, Mark A MA; O'Conor, Christopher J CJ; Ritter, Jon H JH; Olsen, Rachelle R RR; Cheng, Haixia H; Mukhopadhyay, Anandaroop A; Can, Ismail I; Cessna, Melissa H MH; Oliver, Trudy G TG; Mardis, Elaine R ER; Wilson, Richard K RK; Griffith, Malachi M; Griffith, Obi L OL; Govindan, Ramaswamy R
Publication Date: 2018-09-17

Variant appearance in text: RB1: E287D
PubMed Link: 30224629
Variant Present in the following documents:
  • 41467_2018_6162_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of Somatic Mutations in Air Pollution-Related Lung Cancer.

Ebiomedicine
Yu, Xian-Jun XJ; Yang, Min-Jun MJ; Zhou, Bo B; Wang, Gui-Zhen GZ; Huang, Yun-Chao YC; Wu, Li-Chuan LC; Cheng, Xin X; Wen, Zhe-Sheng ZS; Huang, Jin-Yan JY; Zhang, Yun-Dong YD; Gao, Xiao-Hong XH; Li, Gao-Feng GF; He, Shui-Wang SW; Gu, Zhao-Hui ZH; Ma, Liang L; Pan, Chun-Ming CM; Wang, Ping P; Chen, Hao-Bin HB; Hong, Zhi-Peng ZP; Wang, Xiao-Lu XL; Mao, Wen-Jing WJ; Jin, Xiao-Long XL; Kang, Hui H; Chen, Shu-Ting ST; Zhu, Yong-Qiang YQ; Gu, Wen-Yi WY; Liu, Zi Z; Dong, Hui H; Tian, Lin-Wei LW; Chen, Sai-Juan SJ; Cao, Yi Y; Wang, Sheng-Yue SY; Zhou, Guang-Biao GB
Publication Date: 2015-06

Variant appearance in text: RB1: E287D
PubMed Link: 26288819
Variant Present in the following documents:
  • mmc6.xlsx, sheet 2
View BVdb publication page