BRCA1 c.4570T>G ;(p.S1524A)

Variant ID: 17-41226453-A-C

NM_007294.3(BRCA1):c.4570T>G;(p.S1524A)

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: S1524A
PubMed Link: 36082621
Variant Present in the following documents:
  • Main text
  • CAS-113-4230.pdf
View BVdb publication page



Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA1: S1524A
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Npj Genomic Medicine
Iversen, Edwin S ES; Lipton, Gary G; Hart, Steven N SN; Lee, Kun Y KY; Hu, Chunling C; Polley, Eric C EC; Pesaran, Tina T; Yussuf, Amal A; LaDuca, Holly H; Chao, Elizabeth E; Karam, Rachid R; Goldgar, David E DE; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA
Publication Date: 2022-06-03

Variant appearance in text: BRCA1: S1524A
PubMed Link: 35665744
Variant Present in the following documents:
  • 41525_2022_302_MOESM3_ESM.xlsx, sheet 1
  • 41525_2022_302_MOESM3_ESM.xlsx, sheet 5
  • 41525_2022_Article_302.pdf
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BRCA1-BARD1 regulates transcription through modulating topoisomerase IIβ.

Open Biology
Bunch, Heeyoun H; Jeong, Jaehyeon J; Kang, Keunsoo K; Jo, Doo Sin DS; Cong, Anh T Q ATQ; Kim, Deukyeong D; Kim, Donguk D; Cho, Dong-Hyung DH; Lee, You Mie YM; Chen, Benjamin P C BPC; Schellenberg, Matthew J MJ; Calderwood, Stuart K SK
Publication Date: 2021-10

Variant appearance in text: BRCA1: S1524A
PubMed Link: 34610268
Variant Present in the following documents:
  • Main text
  • rsob.210221.pdf
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 4570T>G; Ser1524Ala
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA1: S1524A
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



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: S1524A
PubMed Link: 27170701
Variant Present in the following documents:
  • Main text
  • rrw032.pdf
View BVdb publication page



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: S1524A
PubMed Link: 26320175
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: S1524A
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: Ser1524Ala
PubMed Link: 24845084
Variant Present in the following documents:
  • Main text
  • pone.0097766.pdf
View BVdb publication page



BAF complexes facilitate decatenation of DNA by topoisomerase IIα.

Nature
Dykhuizen, Emily C EC; Hargreaves, Diana C DC; Miller, Erik L EL; Cui, Kairong K; Korshunov, Andrey A; Kool, Marcel M; Pfister, Stefan S; Cho, Yoon-Jae YJ; Zhao, Keji K; Crabtree, Gerald R GR
Publication Date: 2013-05-30

Variant appearance in text: BRCA1: S1524A
PubMed Link: 23698369
Variant Present in the following documents:
  • nihms463906.pdf
View BVdb publication page



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: S1524A
PubMed Link: 22836122
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deregulation of BRCA1 leads to impaired spatiotemporal dynamics of γ-H2AX and DNA damage responses in Huntington's disease.

Molecular Neurobiology
Jeon, Gye Sun GS; Kim, Ki Yoon KY; Hwang, Yu Jin YJ; Jung, Min-Kyung MK; An, Sungkwan S; Ouchi, Mutsuko M; Ouchi, Toru T; Kowall, Neil N; Lee, Junghee J; Ryu, Hoon H
Publication Date: 2012-06

Variant appearance in text: BRCA1: S1524A
PubMed Link: 22580959
Variant Present in the following documents:
  • Main text
View BVdb publication page



The cellular response to DNA damage: a focus on MDC1 and its interacting proteins.

Nucleus (Austin, Tex.)
Coster, Gideon G; Goldberg, Michal M
Publication Date: 2010

Variant appearance in text: BRCA1: S1524A
PubMed Link: 21326949
Variant Present in the following documents:
  • Main text
View BVdb publication page



Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.

The Journal Of Clinical Investigation
Chang, Suhwan S; Biswas, Kajal K; Martin, Betty K BK; Stauffer, Stacey S; Sharan, Shyam K SK
Publication Date: 2009-10

Variant appearance in text: BRCA1: S1524A
PubMed Link: 19770520
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: S1524A
PubMed Link: 19622773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Topoisomerase IIalpha controls the decatenation checkpoint.

Nature Cell Biology
Luo, Kuntian K; Yuan, Jian J; Chen, Junjie J; Lou, Zhenkun Z
Publication Date: 2009-02

Variant appearance in text: BRCA1: S1524A
PubMed Link: 19098900
Variant Present in the following documents:
  • Main text
View BVdb publication page