HR c.602T>A ;(p.L201*)

Variant ID: 8-21986082-A-T

NM_005144.4(HR):c.602T>A;(p.L201*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic Profile and BRCA-1 Promoter Methylation Status in BRCA Mutated Ovarian Cancer: New Insights in Predictive Biomarkers of Olaparib Response.

Frontiers In Oncology
Franzese, Elisena E; Centonze, Sara S; Diana, Anna A; Lombardi, Angela A; Carlino, Francesca F; Guerrera, Luigi Pio LP; De Vita, Ferdinando F; Caraglia, Michele M; Pignata, Sandro S; Ciardiello, Fortunato F; Orditura, Michele M
Publication Date: 2019

Variant appearance in text: HR: 602T>A
PubMed Link: 31850198
Variant Present in the following documents:
  • Main text
  • fonc-09-01289.pdf
View BVdb publication page



Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis.

Clinics (Sao Paulo, Brazil)
Toledo, Rodrigo A RA; Mendonca, Berenice B BB; Fragoso, Maria Candida B V MC; Soares, Iberê C IC; Almeida, Madson Q MQ; Moraes, Michelle B MB; Lourenço, Delmar M DM; Alves, Venâncio A F VA; Bronstein, Marcello D MD; Toledo, Sergio P A SP
Publication Date: 2010-04

Variant appearance in text: HR: L201X
PubMed Link: 20454499
Variant Present in the following documents:
  • cln_65p407.pdf
View BVdb publication page