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: 4507C>T; Gln1503Ter; rs1131691164

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: 4507C>T

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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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: ATM: 4507C>T; Q1503*

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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: 4507C>T; Gln1503Ter

PubMed Link: 35595529

Variant Present in the following documents:

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

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: 4507C>T; Q1503X

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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Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.

Journal Of Personalized Medicine

Fonfria, Maria M; de Juan Jiménez, Inmaculada I; Tena, Isabel I; Chirivella, Isabel I; Richart-Aznar, Paula P; Segura, Angel A; Sánchez-Heras, Ana Beatriz AB; Martinez-Dueñas, Eduardo E

Publication Date: 2021-06-12

Variant appearance in text: ATM: 4507C>T; Gln1503Ter; rs1131691164

PubMed Link: 34204722

Variant Present in the following documents:

• Main text
• jpm-11-00548.pdf

View BVdb publication page

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Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.

Cancers

Llach, Joan J; Moreno, Lorena L; Sánchez, Ariadna A; Herrera-Pariente, Cristina C; Ocaña, Teresa T; Cuatrecasas, Miriam M; Rivero-Sánchez, Liseth L; Moreira, Rebeca R; Díaz, Mireia M; Jung, Gerhard G; Pellisé, Maria M; Castells, Antoni A; Balaguer, Francesc F; Carballal, Sabela S; Moreira, Leticia L

Publication Date: 2020-08-23

Variant appearance in text: ATM: 4507C>T; Gln1503Ter

PubMed Link: 32842532

Variant Present in the following documents:

• Main text
• cancers-12-02386.pdf

View BVdb publication page

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Myoclonus in ataxia-telangiectasia.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Termsarasab, Pichet P; Yang, Amy C AC; Frucht, Steven J SJ

Publication Date: 2015

Variant appearance in text: ATM: Q1503*

PubMed Link: 25793145

Variant Present in the following documents:

• Main text
• tre-05-298-6601-1.pdf

View BVdb publication page

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