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

Variant ID: 11-108127045-C-A

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

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Multiomics analysis of serial PARP inhibitor treated metastatic TNBC inform on rational combination therapies.

Npj Precision Oncology
Labrie, Marilyne M; Li, Allen A; Creason, Allison A; Betts, Courtney C; Keck, Jamie J; Johnson, Brett B; Sivagnanam, Shamilene S; Boniface, Christopher C; Ma, Hongli H; Blucher, Aurora A; Chang, Young Hwan YH; Chin, Koei K; Vuky, Jacqueline J; Guimaraes, Alexander R AR; Downey, Molly M; Lim, Jeong Youn JY; Gao, Lina L; Siex, Kiara K; Parmar, Swapnil S; Kolodzie, Annette A; Spellman, Paul T PT; Goecks, Jeremy J; Coussens, Lisa M LM; Corless, Christopher L CL; Bergan, Raymond R; Gray, Joe W JW; Mills, Gordon B GB; Mitri, Zahi I ZI
Publication Date: 2021-10-19

Variant appearance in text: ATM: 2228C>A; S743*
PubMed Link: 34667258
Variant Present in the following documents:
  • 41698_2021_232_MOESM1_ESM.pdf
View BVdb publication page



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



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