Publications:

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: L393*

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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: L393X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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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: 1178T>A; Leu393X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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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: Leu393*

PubMed Link: 28947987

Variant Present in the following documents:

• Main text
• oncotarget-08-60487.pdf

View BVdb publication page