BRCA1 c.4960del ;(p.V1654Cfs*4)

Variant ID: 17-41222970-AC-A

NM_007294.3(BRCA1):c.4960del;(p.V1654Cfs*4)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: BRCA1: V1654Cfs*4
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



BRCA1 Deficiency Impairs Mitophagy and Promotes Inflammasome Activation and Mammary Tumor Metastasis.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Chen, Qiang Q; Lei, Josh Haipeng JH; Bao, Jiaolin J; Wang, Haitao H; Hao, Wenhui W; Li, Licen L; Peng, Cheng C; Masuda, Takaaki T; Miao, Kai K; Xu, Jun J; Xu, Xiaoling X; Deng, Chu-Xia CX
Publication Date: 2020-03

Variant appearance in text: BRCA1: V1654Cfs*4
PubMed Link: 32195105
Variant Present in the following documents:
  • ADVS-7-1903616-s007.pdf
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: BRCA1: V1654Cfs*4
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in response to DNA damage.

Nature Communications
Biswas, Kajal K; Philip, Subha S; Yadav, Aditya A; Martin, Betty K BK; Burkett, Sandra S; Singh, Vaibhav V; Babbar, Anav A; North, Susan Lynn SL; Chang, Suhwan S; Sharan, Shyam K SK
Publication Date: 2018-02-07

Variant appearance in text: BRCA1: V1654Cfs*4
PubMed Link: 29416040
Variant Present in the following documents:
  • 41467_2018_3020_MOESM1_ESM.pdf
View BVdb publication page