RB1 c.52_53delinsCA ;(p.A18Q)

Variant ID: 13-48878100-GC-CA

NM_000321.2(RB1):c.52_53delinsCA;(p.A18Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.

Communications Biology
Inagaki-Kawata, Yukiko Y; Yoshida, Kenichi K; Kawaguchi-Sakita, Nobuko N; Kawashima, Masahiro M; Nishimura, Tomomi T; Senda, Noriko N; Shiozawa, Yusuke Y; Takeuchi, Yasuhide Y; Inoue, Yoshikage Y; Sato-Otsubo, Aiko A; Fujii, Yoichi Y; Nannya, Yasuhito Y; Suzuki, Eiji E; Takada, Masahiro M; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Chiba, Kenichi K; Kataoka, Yuki Y; Torii, Masae M; Yoshibayashi, Hiroshi H; Yamagami, Kazuhiko K; Okamura, Ryuji R; Moriguchi, Yoshio Y; Kato, Hironori H; Tsuyuki, Shigeru S; Yamauchi, Akira A; Suwa, Hirofumi H; Inamoto, Takashi T; Miyano, Satoru S; Ogawa, Seishi S; Toi, Masakazu M
Publication Date: 2020-10-16

Variant appearance in text: RB1: A18Q
PubMed Link: 33067557
Variant Present in the following documents:
  • 42003_2020_1301_MOESM1_ESM.pdf
View BVdb publication page



Knowledge-guided analysis of "omics" data using the KnowEnG cloud platform.

Plos Biology
Blatti, Charles C; Emad, Amin A; Berry, Matthew J MJ; Gatzke, Lisa L; Epstein, Milt M; Lanier, Daniel D; Rizal, Pramod P; Ge, Jing J; Liao, Xiaoxia X; Sobh, Omar O; Lambert, Mike M; Post, Corey S CS; Xiao, Jinfeng J; Groves, Peter P; Epstein, Aidan T AT; Chen, Xi X; Srinivasan, Subhashini S; Lehnert, Erik E; Kalari, Krishna R KR; Wang, Liewei L; Weinshilboum, Richard M RM; Song, Jun S JS; Jongeneel, C Victor CV; Han, Jiawei J; Ravaioli, Umberto U; Sobh, Nahil N; Bushell, Colleen B CB; Sinha, Saurabh S
Publication Date: 2020-01

Variant appearance in text: RB1: A18Q
PubMed Link: 31971940
Variant Present in the following documents:
  • pbio.3000583.s006.xlsx, sheet 13
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: RB1: A18Q
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Genetic determinants of cellular addiction to DNA polymerase theta.

Nature Communications
Feng, Wanjuan W; Simpson, Dennis A DA; Carvajal-Garcia, Juan J; Price, Brandon A BA; Kumar, Rashmi J RJ; Mose, Lisle E LE; Wood, Richard D RD; Rashid, Naim N; Purvis, Jeremy E JE; Parker, Joel S JS; Ramsden, Dale A DA; Gupta, Gaorav P GP
Publication Date: 2019-09-19

Variant appearance in text: RB1: A18Q
PubMed Link: 31537809
Variant Present in the following documents:
  • 41467_2019_12234_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page