BRCA1 c.4267_4268delinsGC ;(p.S1423A)

Variant ID: 17-41234510-CT-GC

NM_007294.3(BRCA1):c.4267_4268delinsGC;(p.S1423A)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


BRCA1 transports the DNA damage signal for CDDP-induced centrosome amplification through the centrosomal Aurora A.

Cancer Science
Qi, Huicheng H; Kikuchi, Megumi M; Yoshino, Yuki Y; Fang, Zhenzhou Z; Ohashi, Kazune K; Gotoh, Takato T; Ideta, Ryo R; Ui, Ayako A; Endo, Shino S; Otsuka, Kei K; Shindo, Norihisa N; Gonda, Kohsuke K; Ishioka, Chikashi C; Miki, Yoshio Y; Iwabuchi, Tokuro T; Chiba, Natsuko N
Publication Date: 2022-09-09

Variant appearance in text: BRCA1: S1423A
PubMed Link: 36082621
Variant Present in the following documents:
  • Main text
  • CAS-113-4230.pdf
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PP2Cδ inhibits p300-mediated p53 acetylation via ATM/BRCA1 pathway to impede DNA damage response in breast cancer.

Science Advances
Li, Qun Q; Hao, Qiongyu Q; Cao, Wei W; Li, Jieqing J; Wu, Ke K; Elshimali, Yahya Y; Zhu, Donghui D; Chen, Qiao-Hong QH; Chen, Guanglin G; Pollack, Jonathan R JR; Vadgama, Jay J; Wu, Yong Y
Publication Date: 2019-10

Variant appearance in text: BRCA1: S1423A
PubMed Link: 31663018
Variant Present in the following documents:
  • Main text
  • aaw8417.pdf
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A novel model to characterize structure and function of BRCA1.

Cell Biology International
Lin, Dong D; Izadpanah, Reza R; Braun, Stephen E SE; Alt, Eckhard E
Publication Date: 2018-01

Variant appearance in text: BRCA1: S1423A
PubMed Link: 28833843
Variant Present in the following documents:
  • Main text
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Unsolved mystery: the role of BRCA1 in DNA end-joining.

Journal Of Radiation Research
Saha, Janapriya J; Davis, Anthony J AJ
Publication Date: 2016-08

Variant appearance in text: BRCA1: S1423A
PubMed Link: 27170701
Variant Present in the following documents:
  • Main text
  • rrw032.pdf
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Mutation of the BRCA1 SQ-cluster results in aberrant mitosis, reduced homologous recombination, and a compensatory increase in non-homologous end joining.

Oncotarget
Beckta, Jason M JM; Dever, Seth M SM; Gnawali, Nisha N; Khalil, Ashraf A; Sule, Amrita A; Golding, Sarah E SE; Rosenberg, Elizabeth E; Narayanan, Aarthi A; Kehn-Hall, Kylene K; Xu, Bo B; Povirk, Lawrence F LF; Valerie, Kristoffer K
Publication Date: 2015-09-29

Variant appearance in text: BRCA1: S1423A
PubMed Link: 26320175
Variant Present in the following documents:
  • Main text
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BRCA1 functions as a novel transcriptional cofactor in HIV-1 infection.

Virology Journal
Guendel, Irene I; Meltzer, Beatrix W BW; Baer, Alan A; Dever, Seth M SM; Valerie, Kristoffer K; Guo, Jia J; Wu, Yuntao Y; Kehn-Hall, Kylene K
Publication Date: 2015-03-06

Variant appearance in text: BRCA1: S1423A
PubMed Link: 25879655
Variant Present in the following documents:
  • Main text
  • 12985_2015_Article_266.pdf
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Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

Plos One
Carvalho, Renato S RS; Abreu, Renata B V RB; Velkova, Aneliya A; Marsillac, Sylvia S; Rodarte, Renato S RS; Suarez-Kurtz, Guilherme G; Iversen, Edwin S ES; Monteiro, Alvaro N A AN; Carvalho, Marcelo A MA
Publication Date: 2014

Variant appearance in text: BRCA1: S1423A
PubMed Link: 24845084
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a BRCA1-mRNA splicing complex required for efficient DNA repair and maintenance of genomic stability.

Molecular Cell
Savage, Kienan I KI; Gorski, Julia J JJ; Barros, Eliana M EM; Irwin, Gareth W GW; Manti, Lorenzo L; Powell, Alexander J AJ; Pellagatti, Andrea A; Lukashchuk, Natalia N; McCance, Dennis J DJ; McCluggage, W Glenn WG; Schettino, Giuseppe G; Salto-Tellez, Manuel M; Boultwood, Jacqueline J; Richard, Derek J DJ; McDade, Simon S SS; Harkin, D Paul DP
Publication Date: 2014-05-08

Variant appearance in text: BRCA1: S1423A
PubMed Link: 24746700
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • mmc1.pdf
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Links between genome integrity and BRCA1 tumor suppression.

Trends In Biochemical Sciences
Li, Mischa L ML; Greenberg, Roger A RA
Publication Date: 2012-10

Variant appearance in text: BRCA1: S1423A
PubMed Link: 22836122
Variant Present in the following documents:
  • Main text
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DNA damage-induced cytotoxicity is dissociated from BRCA1's DNA repair function but is dependent on its cytosolic accumulation.

Cancer Research
Wang, Hong H; Yang, Eddy S ES; Jiang, Juhong J; Nowsheen, Somaira S; Xia, Fen F
Publication Date: 2010-08-01

Variant appearance in text: BRCA1: S1423A
PubMed Link: 20631074
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low concentrations of diindolylmethane, a metabolite of indole-3-carbinol, protect against oxidative stress in a BRCA1-dependent manner.

Cancer Research
Fan, Saijun S; Meng, Qinghui Q; Saha, Tapas T; Sarkar, Fazlul H FH; Rosen, Eliot M EM
Publication Date: 2009-08-01

Variant appearance in text: BRCA1: S1423A
PubMed Link: 19622773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heregulin-dependent delay in mitotic progression requires HER4 and BRCA1.

Molecular And Cellular Biology
Muraoka-Cook, Rebecca S RS; Caskey, Laura S LS; Sandahl, Melissa A MA; Hunter, Debra M DM; Husted, Carty C; Strunk, Karen E KE; Sartor, Carolyn I CI; Rearick, William A WA; McCall, Wesley W; Sgagias, Magdalene K MK; Cowan, Kenneth H KH; Earp, H Shelton HS
Publication Date: 2006-09

Variant appearance in text: BRCA1: S1423A
PubMed Link: 16914727
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA1 is required for common-fragile-site stability via its G2/M checkpoint function.

Molecular And Cellular Biology
Arlt, Martin F MF; Xu, Bo B; Durkin, Sandra G SG; Casper, Anne M AM; Kastan, Michael B MB; Glover, Thomas W TW
Publication Date: 2004-08

Variant appearance in text: BRCA1: S1423A
PubMed Link: 15254237
Variant Present in the following documents:
  • Main text
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Chk2 phosphorylation of BRCA1 regulates DNA double-strand break repair.

Molecular And Cellular Biology
Zhang, Junran J; Willers, Henning H; Feng, Zhihui Z; Ghosh, Jagadish C JC; Kim, Sang S; Weaver, David T DT; Chung, Jay H JH; Powell, Simon N SN; Xia, Fen F
Publication Date: 2004-01

Variant appearance in text: BRCA1: S1423A
PubMed Link: 14701743
Variant Present in the following documents:
  • Main text
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Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage.

Genes & Development
Kim, Seong-Tae ST; Xu, Bo B; Kastan, Michael B MB
Publication Date: 2002-03-01

Variant appearance in text: BRCA1: S1423A
PubMed Link: 11877376
Variant Present in the following documents:
  • Main text
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Two molecularly distinct G(2)/M checkpoints are induced by ionizing irradiation.

Molecular And Cellular Biology
Xu, Bo B; Kim, Seong-Tae ST; Lim, Dae-Sik DS; Kastan, Michael B MB
Publication Date: 2002-02

Variant appearance in text: BRCA1: S1423A
PubMed Link: 11809797
Variant Present in the following documents:
  • Main text
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Involvement of Brca1 in S-phase and G(2)-phase checkpoints after ionizing irradiation.

Molecular And Cellular Biology
Xu, B B; Kim St, ; Kastan, M B MB
Publication Date: 2001-05

Variant appearance in text: BRCA1: S1423A
PubMed Link: 11313470
Variant Present in the following documents:
  • Main text
View BVdb publication page