ATM c.824T>G ;(p.L275*)

Variant ID: 11-108115676-T-G

NM_000051.3(ATM):c.824T>G;(p.L275*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Cancers
Putti, Sabrina S; Giovinazzo, Alessandro A; Merolle, Matilde M; Falchetti, Maria Laura ML; Pellegrini, Manuela M
Publication Date: 2021-11-01

Variant appearance in text: ATM: L275X
PubMed Link: 34771661
Variant Present in the following documents:
  • Main text
  • cancers-13-05498.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: L275*
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: L275*
PubMed Link: 32694154
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Scientific Reports
Mariani, L L LL; Rivaud-PĂ©choux, S S; Charles, P P; Ewenczyk, C C; Meneret, A A; Monga, B B BB; Fleury, M-C MC; Hainque, E E; Maisonobe, T T; Degos, B B; Echaniz-Laguna, A A; Renaud, M M; Wirth, T T; Grabli, D D; Brice, A A; Vidailhet, M M; Stoppa-Lyonnet, D D; Dubois-d'Enghien, C C; Le Ber, I I; Koenig, M M; Roze, E E; Tranchant, C C; Durr, A A; Gaymard, B B; Anheim, M M
Publication Date: 2017-11-10

Variant appearance in text: ATM: L275*
PubMed Link: 29127364
Variant Present in the following documents:
View BVdb publication page



Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

British Journal Of Cancer
Reiman, A A; Srinivasan, V V; Barone, G G; Last, J I JI; Wootton, L L LL; Davies, E G EG; Verhagen, M M MM; Willemsen, M A MA; Weemaes, C M CM; Byrd, P J PJ; Izatt, L L; Easton, D F DF; Thompson, D J DJ; Taylor, A M AM
Publication Date: 2011-08-09

Variant appearance in text: ATM: Leu275X
PubMed Link: 21792198
Variant Present in the following documents:
View BVdb publication page