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: 901+1G>A; rs748840480

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Frontiers In Oncology

Borja, Nicholas A NA; Silva-Smith, Rachel R; Huang, Marilyn M; Parekh, Dipen J DJ; Sussman, Daniel D; Tekin, Mustafa M

Publication Date: 2023

Variant appearance in text: ATM: 901+1G>A

PubMed Link: 36865800

Variant Present in the following documents:

• DataSheet_1.pdf

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: 901+1G>A

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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Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.

Frontiers In Oncology

Megid, Thais Baccili Cury TBC; Barros-Filho, Mateus C MC; Pisani, Janina Pontes JP; Achatz, Maria Isabel MI

Publication Date: 2022

Variant appearance in text: ATM: 901+1G>A

PubMed Link: 36003761

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: ATM: 901+1G>A; rs748840480

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 3

View BVdb publication page

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Haplotype-resolved germline and somatic alterations in renal medullary carcinomas.

Genome Medicine

Tan, Kar-Tong KT; Kim, Hyunji H; Carrot-Zhang, Jian J; Zhang, Yuxiang Y; Kim, Won Jun WJ; Kugener, Guillaume G; Wala, Jeremiah A JA; Howard, Thomas P TP; Chi, Yueh-Yun YY; Beroukhim, Rameen R; Li, Heng H; Ha, Gavin G; Alper, Seth L SL; Perlman, Elizabeth J EJ; Mullen, Elizabeth A EA; Hahn, William C WC; Meyerson, Matthew M; Hong, Andrew L AL

Publication Date: 2021-07-14

Variant appearance in text: ATM: 901+1G>A

PubMed Link: 34261517

Variant Present in the following documents:

• 13073_2021_929_MOESM1_ESM.xlsx, sheet 4

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: rs748840480

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ATM: 901+1G>A; rs748840480

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATM: 901+1G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

Breast Cancer Research And Treatment

Pritzlaff, Mary M; Summerour, Pia P; McFarland, Rachel R; Li, Shuwei S; Reineke, Patrick P; Dolinsky, Jill S JS; Goldgar, David E DE; Shimelis, Hermela H; Couch, Fergus J FJ; Chao, Elizabeth C EC; LaDuca, Holly H

Publication Date: 2017-02

Variant appearance in text: ATM: 901+1G>A

PubMed Link: 28008555

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: 901+1G>A

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

View BVdb publication page

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