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: BRCA1: E530*

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Multiomics analysis of serial PARP inhibitor treated metastatic TNBC inform on rational combination therapies.

Npj Precision Oncology

Labrie, Marilyne M; Li, Allen A; Creason, Allison A; Betts, Courtney C; Keck, Jamie J; Johnson, Brett B; Sivagnanam, Shamilene S; Boniface, Christopher C; Ma, Hongli H; Blucher, Aurora A; Chang, Young Hwan YH; Chin, Koei K; Vuky, Jacqueline J; Guimaraes, Alexander R AR; Downey, Molly M; Lim, Jeong Youn JY; Gao, Lina L; Siex, Kiara K; Parmar, Swapnil S; Kolodzie, Annette A; Spellman, Paul T PT; Goecks, Jeremy J; Coussens, Lisa M LM; Corless, Christopher L CL; Bergan, Raymond R; Gray, Joe W JW; Mills, Gordon B GB; Mitri, Zahi I ZI

Publication Date: 2021-10-19

Variant appearance in text: BRCA1: 1588G>T; E530*

PubMed Link: 34667258

Variant Present in the following documents:

• 41698_2021_232_MOESM1_ESM.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: BRCA1: E530X

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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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: BRCA1: E530*

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA1: 1588G>T; Glu530X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.

Oncotarget

Solano, Angela Rosaria AR; Cardoso, Florencia Cecilia FC; Romano, Vanesa V; Perazzo, Florencia F; Bas, Carlos C; Recondo, Gonzalo G; Santillan, Francisco Bernardo FB; Gonzalez, Eduardo E; Abalo, Eduardo E; Viniegra, María M; Michel, José Davalos JD; Nuñez, Lina María LM; Noblia, Cristina Maria CM; Mc Lean, Ignacio I; Canton, Enrique Diaz ED; Chacon, Reinaldo Daniel RD; Cortese, Gustavo G; Varela, Eduardo Beccar EB; Greco, Martín M; Barrientos, María Laura ML; Avila, Silvia Adela SA; Vuotto, Hector Daniel HD; Lorusso, Antonio A; Podesta, Ernesto Jorge EJ; Mando, Oscar Gaspar OG

Publication Date: 2017-09-01

Variant appearance in text: BRCA1: Glu530*

PubMed Link: 28947987

Variant Present in the following documents:

• Main text
• oncotarget-08-60487.pdf

View BVdb publication page

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