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: BRCA2: 4889C>A; Ser1630Ter; rs80358711

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: BRCA2: 4889C>A; Ser1630Ter

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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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: BRCA2: S1630X

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study.

Genome Medicine

Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Patel, Hitendra H; Nikanjam, Mina M; Fanta, Paul T PT; Hahn, Michael E ME; De, Pradip P; Williams, Casey C; Guido, Jessica J; Solomon, Benjamin M BM; McKay, Rana R RR; Krie, Amy A; Boles, Sarah G SG; Ross, Jeffrey S JS; Lee, J Jack JJ; Leyland-Jones, Brian B; Lippman, Scott M SM; Kurzrock, Razelle R

Publication Date: 2021-10-04

Variant appearance in text: BRCA2: S1630*

PubMed Link: 34607609

Variant Present in the following documents:

• 13073_2021_969_MOESM1_ESM.xlsx, sheet 1
• 13073_2021_969_MOESM1_ESM.xlsx, sheet 2

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: N/A

PubMed Link: 34253785

Variant Present in the following documents:

View BVdb publication page

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Comprehensive genomic landscape and precision therapeutic approach in biliary tract cancers.

International Journal Of Cancer

Okamura, Ryosuke R; Kurzrock, Razelle R; Mallory, Robert J RJ; Fanta, Paul T PT; Burgoyne, Adam M AM; Clary, Bryan M BM; Kato, Shumei S; Sicklick, Jason K JK

Publication Date: 2021-02-01

Variant appearance in text: BRCA2: S1630*

PubMed Link: 32700810

Variant Present in the following documents:

• IJC-148-702-s001.pdf

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: BRCA2: 4889C>A; Ser1630X

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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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: N/A

PubMed Link: 32210335

Variant Present in the following documents:

View BVdb publication page

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Mutational spectrum in breast cancer associated and genes in Colombia.

Colombia Medica (Cali, Colombia)

Briceño-Balcázar, Ignacio I; Gómez-Gutiérrez, Alberto A; Díaz-Dussán, Natalia Andrea NA; Noguera-Santamaría, María Claudia MC; Díaz-Rincón, Diego D; Casas-Gómez, María Consuelo MC

Publication Date: 2017-06-30

Variant appearance in text: BRCA2: S1630X

PubMed Link: 29021639

Variant Present in the following documents:

• Main text
• 1657-9534-cm-48-02-00058.pdf

View BVdb publication page

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