Publications:

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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: 1931C>A; Ser644Ter; rs768362387

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: 1931C>A; Ser644Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 1931C>A; Ser644Ter; rs768362387

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Resolving gastric cancer aetiology: an update in genetic predisposition.

The Lancet. Gastroenterology & Hepatology

Lott, Paul C PC; Carvajal-Carmona, Luis G LG

Publication Date: 2018-12

Variant appearance in text: rs768362387

PubMed Link: 30507471

Variant Present in the following documents:

• Main text

View BVdb publication page

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Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife

Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S

Publication Date: 2016-06-15

Variant appearance in text: ATM: 1931C>A; Ser644*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.

Cancer Letters

Smith, Alyssa L AL; Alirezaie, Najmeh N; Connor, Ashton A; Chan-Seng-Yue, Michelle M; Grant, Robert R; Selander, Iris I; Bascuñana, Claire C; Borgida, Ayelet A; Hall, Anita A; Whelan, Thomas T; Holter, Spring S; McPherson, Treasa T; Cleary, Sean S; Petersen, Gloria M GM; Omeroglu, Atilla A; Saloustros, Emmanouil E; McPherson, John J; Stein, Lincoln D LD; Foulkes, William D WD; Majewski, Jacek J; Gallinger, Steven S; Zogopoulos, George G

Publication Date: 2016-01-28

Variant appearance in text: ATM: 1931C>A; Ser644*

PubMed Link: 26546047

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

Gastroenterology

Grant, Robert C RC; Selander, Iris I; Connor, Ashton A AA; Selvarajah, Shamini S; Borgida, Ayelet A; Briollais, Laurent L; Petersen, Gloria M GM; Lerner-Ellis, Jordan J; Holter, Spring S; Gallinger, Steven S

Publication Date: 2015-03

Variant appearance in text: ATM: S644X

PubMed Link: 25479140

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.

Human Genomics

Grant, Robert C RC; Al-Sukhni, Wigdan W; Borgida, Ayelet E AE; Holter, Spring S; Kanji, Zaheer S ZS; McPherson, Treasa T; Whelan, Emily E; Serra, Stefano S; Trinh, Quang M QM; Peltekova, Vanya V; Stein, Lincoln D LD; McPherson, John D JD; Gallinger, Steven S

Publication Date: 2013-04-05

Variant appearance in text: ATM: S644X

PubMed Link: 23561644

Variant Present in the following documents:

• Main text
• 1479-7364-7-11.pdf

View BVdb publication page

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