ATM c.2228C>G ;(p.S743*)

Variant ID: 11-108127045-C-G

NM_000051.3(ATM):c.2228C>G;(p.S743*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Lotan, Tamara L TL; Kaur, Harsimar B HB; Salles, Daniela C DC; Murali, Sanjana S; Schaeffer, Edward M EM; Lanchbury, Jerry S JS; Isaacs, William B WB; Brown, Robert R; Richardson, Andrea L AL; Cussenot, Olivier O; Cancel-Tassin, Geraldine G; Timms, Kirsten M KM; Antonarakis, Emmanuel S ES
Publication Date: 2021-06

Variant appearance in text: ATM: S743*
PubMed Link: 33462368
Variant Present in the following documents:
  • NIHMS1655161-supplement-1.pdf
View BVdb publication page



Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.

Jama Network Open
Lincoln, Stephen E SE; Nussbaum, Robert L RL; Kurian, Allison W AW; Nielsen, Sarah M SM; Das, Kingshuk K; Michalski, Scott S; Yang, Shan S; Ngo, Nhu N; Blanco, Amie A; Esplin, Edward D ED
Publication Date: 2020-10-01

Variant appearance in text: ATM: 2228C>G; Ser743*
PubMed Link: 33026450
Variant Present in the following documents:
  • jamanetwopen-e2019452-s001.pdf
View BVdb publication page



Genomic and Clinicopathologic Characterization of ATM-deficient Prostate Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Kaur, Harsimar H; Salles, Daniela C DC; Murali, Sanjana S; Hicks, Jessica L JL; Nguyen, Minh M; Pritchard, Colin C CC; De Marzo, Angelo M AM; Lanchbury, Jerry S JS; Trock, Bruce J BJ; Isaacs, William B WB; Timms, Kirsten M KM; Antonarakis, Emmanuel S ES; Lotan, Tamara L TL
Publication Date: 2020-09-15

Variant appearance in text: ATM: S743*
PubMed Link: 32694154
Variant Present in the following documents:
  • Main text
View BVdb publication page