BRCA1 c.4612_4670del ;(p.Q1538Sfs*16)

Variant ID: 17-41226353-ATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTG-A

NM_007294.3(BRCA1):c.4612_4670del;(p.Q1538Sfs*16)

This variant was identified in 2 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: 4487_4675+2del
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



BRCA1 Alternative splicing landscape in breast tissue samples.

Bmc Cancer
Romero, Atocha A; García-García, Francisco F; López-Perolio, Irene I; Ruiz de Garibay, Gorka G; García-Sáenz, José A JA; Garre, Pilar P; Ayllón, Patricia P; Benito, Esperanza E; Dopazo, Joaquín J; Díaz-Rubio, Eduardo E; Caldés, Trinidad T; de la Hoya, Miguel M
Publication Date: 2015-04-03

Variant appearance in text: BRCA1: 4485_4675del
PubMed Link: 25884417
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1145.pdf
View BVdb publication page