ATM c.2124+1G>A

Variant ID: 11-108124767-G-A

NM_000051.3(ATM):c.2124+1G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Control of replication stress and mitosis in colorectal cancer stem cells through the interplay of PARP1, MRE11 and RAD51.

Cell Death And Differentiation
Manic, Gwenola G; Musella, Martina M; Corradi, Francesca F; Sistigu, Antonella A; Vitale, Sara S; Soliman Abdel Rehim, Sara S; Mattiello, Luca L; Malacaria, Eva E; Galassi, Claudia C; Signore, Michele M; Pallocca, Matteo M; Scalera, Stefano S; Goeman, Frauke F; De Nicola, Francesca F; Guarracino, Andrea A; Pennisi, Rosa R; Antonangeli, Fabrizio F; Sperati, Francesca F; Baiocchi, Marta M; Biffoni, Mauro M; Fanciulli, Maurizio M; Maugeri-SaccĂ , Marcello M; Franchitto, Annapaola A; Pichierri, Pietro P; De Maria, Ruggero R; Vitale, Ilio I
Publication Date: 2021-07

Variant appearance in text: ATM: 2124+1G>A
PubMed Link: 33531658
Variant Present in the following documents:
  • 41418_2020_733_MOESM5_ESM.xlsx, sheet 1
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: 2124+1G>A
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: 2124+1G>A
PubMed Link: 32694154
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: ATM: 2124+1G>A
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page