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: 6176C>T; T2059I; rs144761622

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 9

View BVdb publication page

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: rs144761622

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: ATM: 6176C>T

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.

Hgg Advances

Loke, Johnny J; Alim, Ishraq I; Yam, Sarah S; Klugman, Susan S; Xia, Li C LC; Gruber, Dorota D; Tegay, David D; LaBella, Andrea A; Onel, Kenan K; Ostrer, Harry H

Publication Date: 2022-04-14

Variant appearance in text: ATM: 6176C>T; T2059I; rs144761622

PubMed Link: 35146455

Variant Present in the following documents:

• mmc2.xlsx, sheet 1
• mmc1.pdf
• mmc4.pdf

View BVdb publication page

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Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports

Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F

Publication Date: 2022-01-17

Variant appearance in text: ATM: 6176C>T; Thr2059Ile; rs144761622

PubMed Link: 35039564

Variant Present in the following documents:

• Main text
• 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1
• 41598_2022_Article_4791.pdf

View BVdb publication page

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Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports

Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F

Publication Date: 2022-01-17

Variant appearance in text: ATM: 6176C>T; Thr2059Ile; rs144761622

PubMed Link: 35039564

Variant Present in the following documents:

• Main text
• 41598_2022_4791_MOESM8_ESM.xlsx, sheet 1
• 41598_2022_Article_4791.pdf

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: 6176C>T; T2059I; rs144761622

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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: 6176C>T; Thr2059Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: ATM: T2059I; rs144761622

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s008.xlsx, sheet 1

View BVdb publication page

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