ATM c.8427_8428insT ;(p.K2810*)

Variant ID: 11-108216478-A-AT

NM_000051.3(ATM):c.8427_8428insT;(p.K2810*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10

Variant appearance in text: ATM: Lys2810fs
PubMed Link: 35012638
Variant Present in the following documents:
  • 13073_2021_990_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10

Variant appearance in text: ATM: Lys2810fs
PubMed Link: 35012638
Variant Present in the following documents:
  • 13073_2021_990_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: data from the UK LRF CLL4 trial.

Haematologica
Rose-Zerilli, Matthew J J MJ; Forster, Jade J; Parker, Helen H; Parker, Anton A; Rodríguez, Ana E AE; Chaplin, Tracy T; Gardiner, Anne A; Steele, Andrew J AJ; Collins, Andrew A; Young, Bryan D BD; Skowronska, Anna A; Catovsky, Daniel D; Stankovic, Tatjana T; Oscier, David G DG; Strefford, Jonathan C JC
Publication Date: 2014-04

Variant appearance in text: ATM: Lys2810fs
PubMed Link: 24584352
Variant Present in the following documents:
  • Main text
View BVdb publication page