ATM c.1215del ;(p.N405Kfs*15)

Variant ID: 11-108119809-AT-A

NM_000051.3(ATM):c.1215del;(p.N405Kfs*15)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: ATM: 1215del; Asn405fs; rs1555069815
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ATM: 1215del; Asn405fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 1215delT; N405fs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.

Cancers
Fountzilas, Elena E; Eliades, Alexia A; Koliou, Georgia-Angeliki GA; Achilleos, Achilleas A; Loizides, Charalambos C; Tsangaras, Kyriakos K; Pectasides, Dimitrios D; Sgouros, Joseph J; Papakostas, Pavlos P; Rallis, Grigorios G; Psyrri, Amanda A; Papadimitriou, Christos C; Oikonomopoulos, Georgios G; Ferentinos, Konstantinos K; Koumarianou, Anna A; Zarkavelis, George G; Dervenis, Christos C; Aravantinos, Gerasimos G; Bafaloukos, Dimitrios D; Kosmidis, Paris P; Papaxoinis, George G; Theochari, Maria M; Varthalitis, Ioannis I; Kentepozidis, Nikolaos N; Rigakos, Georgios G; Saridaki, Zacharenia Z; Nikolaidi, Adamantia A; Christopoulou, Athina A; Fostira, Florentia F; Samantas, Epaminontas E; Kypri, Elena E; Ioannides, Marios M; Koumbaris, George G; Fountzilas, George G; Patsalis, Philippos C PC
Publication Date: 2021-01-08

Variant appearance in text: ATM: 1215delT
PubMed Link: 33429865
Variant Present in the following documents:
  • cancers-13-00198-s001.pdf
View BVdb publication page



CDK12-Altered Prostate Cancer: Clinical Features and Therapeutic Outcomes to Standard Systemic Therapies, Poly (ADP-Ribose) Polymerase Inhibitors, and PD-1 Inhibitors.

Jco Precision Oncology
Antonarakis, Emmanuel S ES; Isaacsson Velho, Pedro P; Fu, Wei W; Wang, Hao H; Agarwal, Neeraj N; Sacristan Santos, Victor V; Maughan, Benjamin L BL; Pili, Roberto R; Adra, Nabil N; Sternberg, Cora N CN; Vlachostergios, Panagiotis J PJ; Tagawa, Scott T ST; Bryce, Alan H AH; McNatty, Andrea L AL; Reichert, Zachery R ZR; Dreicer, Robert R; Sartor, Oliver O; Lotan, Tamara L TL; Hussain, Maha M
Publication Date: 2020

Variant appearance in text: ATM: N405fs*15
PubMed Link: 32462107
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports
Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC
Publication Date: 2019-07-18

Variant appearance in text: ATM: 1215delT; N405fs
PubMed Link: 31320741
Variant Present in the following documents:
  • 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Journal Of Medical Genetics
Fostira, Florentia F; Kostantopoulou, Irene I; Apostolou, Paraskevi P; Papamentzelopoulou, Myrto S MS; Papadimitriou, Christos C; Faliakou, Eleni E; Christodoulou, Christos C; Boukovinas, Ioannis I; Razis, Evangelia E; Tryfonopoulos, Dimitrios D; Barbounis, Vasileios V; Vagena, Andromache A; Vlachos, Ioannis S IS; Kalfakakou, Despoina D; Fountzilas, George G; Yannoukakos, Drakoulis D
Publication Date: 2020-01

Variant appearance in text: ATM: 1215delT
PubMed Link: 31300551
Variant Present in the following documents:
  • Main text
  • jmedgenet-2019-106189.pdf
  • jmedgenet-2019-106189supp005.pdf
View BVdb publication page