BRCA1 c.5152+20T>A

Variant ID: 17-41215871-A-T

NM_007294.3(BRCA1):c.5152+20T>A

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 5152+20T>A; rs376836050
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.

Plos One
Salmi, Fatiha F; Maachi, Fatima F; Tazzite, Amal A; Aboutaib, Rachid R; Fekkak, Jamal J; Azeddoug, Houssine H; Jouhadi, Hassan H
Publication Date: 2021

Variant appearance in text: BRCA1: 5152+20T>A
PubMed Link: 34242281
Variant Present in the following documents:
  • Main text
  • pone.0254101.s001.pdf
  • pone.0254101.pdf
View BVdb publication page



Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma.

The Journal Of Clinical Investigation
Ho, Allen S AS; Ochoa, Angelica A; Jayakumaran, Gowtham G; Zehir, Ahmet A; Valero Mayor, Cristina C; Tepe, Justin J; Makarov, Vladimir V; Dalin, Martin G MG; He, Jie J; Bailey, Mark M; Montesion, Meagan M; Ross, Jeffrey S JS; Miller, Vincent A VA; Chan, Lindsay L; Ganly, Ian I; Dogan, Snjezana S; Katabi, Nora N; Tsipouras, Petros P; Ha, Patrick P; Agrawal, Nishant N; Solit, David B DB; Futreal, P Andrew PA; El Naggar, Adel K AK; Reis-Filho, Jorge S JS; Weigelt, Britta B; Ho, Alan L AL; Schultz, Nikolaus N; Chan, Timothy A TA; Morris, Luc Gt LG
Publication Date: 2019-10-01

Variant appearance in text: BRCA1: 5152+20T>A
PubMed Link: 31483290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: BRCA1: 5152+20T>A
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Human Genomics
Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A
Publication Date: 2019-01-10

Variant appearance in text: BRCA1: 5152+20T>A
PubMed Link: 30630528
Variant Present in the following documents:
  • 40246_2018_188_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRCA1: 5152+20T>A
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

Bmc Cancer
Mohammadi, Leila L; Vreeswijk, Maaike P MP; Oldenburg, Rogier R; van den Ouweland, Ans A; Oosterwijk, Jan C JC; van der Hout, Annemarie H AH; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn M; Ausems, Margreet G MG; van der Luijt, Rob B RB; Dommering, Charlotte J CJ; Gille, Johan J JJ; Verhoef, Senno S; Hogervorst, Frans B FB; van Os, Theo A TA; Gómez García, Encarna E; Blok, Marinus J MJ; Wijnen, Juul T JT; Helmer, Quinta Q; Devilee, Peter P; van Asperen, Christi J CJ; van Houwelingen, Hans C HC
Publication Date: 2009-06-29

Variant appearance in text: BRCA1: 5152+20T>A
PubMed Link: 19563646
Variant Present in the following documents:
  • Main text
  • 1471-2407-9-211.pdf
View BVdb publication page