BRCA1 c.667_669del ;(p.K223del)

Variant ID: 17-41247864-CCTT-C

NM_007294.3(BRCA1):c.667_669del;(p.K223del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: BRCA1: Lys223del
PubMed Link: 29254167
Variant Present in the following documents:
  • oncotarget-08-101325.pdf
View BVdb publication page



Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.

Plos One
Wappenschmidt, Barbara B; Becker, Alexandra A AA; Hauke, Jan J; Weber, Ute U; Engert, Stefanie S; Köhler, Juliane J; Kast, Karin K; Arnold, Norbert N; Rhiem, Kerstin K; Hahnen, Eric E; Meindl, Alfons A; Schmutzler, Rita K RK
Publication Date: 2012

Variant appearance in text: BRCA1: Lys223del
PubMed Link: 23239986
Variant Present in the following documents:
  • Main text
  • pone.0050800.pdf
View BVdb publication page