BRCA1 c.594-2A>G

Variant ID: 17-41247941-T-C

NM_007294.3(BRCA1):c.594-2A>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: BRCA1: 594-2A>G; rs80358033
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: 594-2A>G; rs80358033
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: rs80358033
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.

Melanoma Research
Johansson, Peter A PA; Nathan, Vaishnavi V; Bourke, Lauren M LM; Palmer, Jane M JM; Zhang, Tongwu T; Symmons, Judith J; Howlie, Madeleine M; Patch, Ann-Marie AM; Read, Jazlyn J; Holland, Elizabeth A EA; Schmid, Helen H; Warrier, Sunil S; Glasson, William W; Höiom, Veronica V; Wadt, Karin K; Jönsson, Göran G; Olsson, Håkan H; Ingvar, Christian C; Mann, Graham G; Brown, Kevin M KM; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2019-10

Variant appearance in text: rs80358033
PubMed Link: 31464824
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.

International Journal Of Cancer
Brandão, Rita D RD; Mensaert, Klaas K; López-Perolio, Irene I; Tserpelis, Demis D; Xenakis, Markos M; Lattimore, Vanessa V; Walker, Logan C LC; Kvist, Anders A; Vega, Ana A; Gutiérrez-Enríquez, Sara S; Díez, Orland O; , ; de la Hoya, Miguel M; Spurdle, Amanda B AB; De Meyer, Tim T; Blok, Marinus J MJ
Publication Date: 2019-07-15

Variant appearance in text: rs80358033
PubMed Link: 30623411
Variant Present in the following documents:
  • Main text
  • IJC-145-401.pdf
View BVdb publication page



Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.

Oncotarget
Ratajska, Magdalena M; Koczkowska, Magdalena M; Żuk, Monika M; Gorczyński, Adam A; Kuźniacka, Alina A; Stukan, Maciej M; Biernat, Wojciech W; Limon, Janusz J; Wasąg, Bartosz B
Publication Date: 2017-11-24

Variant appearance in text: rs80358033
PubMed Link: 29254167
Variant Present in the following documents:
  • Main text
  • oncotarget-08-101325.pdf
View BVdb publication page



Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Human Molecular Genetics
de la Hoya, Miguel M; Soukarieh, Omar O; López-Perolio, Irene I; Vega, Ana A; Walker, Logan C LC; van Ierland, Yvette Y; Baralle, Diana D; Santamariña, Marta M; Lattimore, Vanessa V; Wijnen, Juul J; Whiley, Philip P; Blanco, Ana A; Raponi, Michela M; Hauke, Jan J; Wappenschmidt, Barbara B; Becker, Alexandra A; Hansen, Thomas V O TV; Behar, Raquel R; Investigators, KConFaB K; Niederacher, Diether D; Arnold, Norbert N; Dworniczak, Bernd B; Steinemann, Doris D; Faust, Ulrike U; Rubinstein, Wendy W; Hulick, Peter J PJ; Houdayer, Claude C; Caputo, Sandrine M SM; Castera, Laurent L; Pesaran, Tina T; Chao, Elizabeth E; Brewer, Carole C; Southey, Melissa C MC; van Asperen, Christi J CJ; Singer, Christian F CF; Sullivan, Jan J; Poplawski, Nicola N; Mai, Phuong P; Peto, Julian J; Johnson, Nichola N; Burwinkel, Barbara B; Surowy, Harald H; Bojesen, Stig E SE; Flyger, Henrik H; Lindblom, Annika A; Margolin, Sara S; Chang-Claude, Jenny J; Rudolph, Anja A; Radice, Paolo P; Galastri, Laura L; Olson, Janet E JE; Hallberg, Emily E; Giles, Graham G GG; Milne, Roger L RL; Andrulis, Irene L IL; Glendon, Gord G; Hall, Per P; Czene, Kamila K; Blows, Fiona F; Shah, Mitul M; Wang, Qin Q; Dennis, Joe J; Michailidou, Kyriaki K; McGuffog, Lesley L; Bolla, Manjeet K MK; Antoniou, Antonis C AC; Easton, Douglas F DF; Couch, Fergus J FJ; Tavtigian, Sean S; Vreeswijk, Maaike P MP; Parsons, Michael M; Meeks, Huong D HD; Martins, Alexandra A; Goldgar, David E DE; Spurdle, Amanda B AB
Publication Date: 2016-06-01

Variant appearance in text: rs80358033
PubMed Link: 27008870
Variant Present in the following documents:
  • Main text
View BVdb publication page