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: 3481_3491del; Asp1161fs; rs1555283262

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: 3481_3491del; Asp1161fs

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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Array genotyping as diagnostic approach in medical genetics.

Molecular Genetics & Genomic Medicine

Witsch-Baumgartner, Martina M; Schwaninger, Gunda G; Schnaiter, Simon S; Kollmann, Franziska F; Burkhard, Silja S; Gröbner, Rebekka R; Mühlegger, Beatrix B; Schamschula, Esther E; Kirchmeier, Peter P; Zschocke, Johannes J

Publication Date: 2022-09

Variant appearance in text: BRCA2: 3481_3491del

PubMed Link: 35912641

Variant Present in the following documents:

• MGG3-10-e2016.pdf

View BVdb publication page

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The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.

Genes

Resch, Luise D LD; Hotz, Alrun A; Zimmer, Andreas D AD; Komlosi, Katalin K; Singh, Nina N; Tzschach, Andreas A; Windfuhr-Blum, Marisa M; Juhasz-Boess, Ingolf I; Erbes, Thalia T; Fischer, Judith J; Alter, Svenja S

Publication Date: 2021-09-24

Variant appearance in text: BRCA2: 3481_3491del

PubMed Link: 34680878

Variant Present in the following documents:

• genes-12-01483.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: BRCA2: 3481_3491delGATGCTGATCT; Asp1161Serfs

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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Towards population-based genetic screenings for breast and ovarian cancer: A comprehensive review from economic evaluations to patient perspectives.

Breast (Edinburgh, Scotland)

Ficarazzi, Filomena F; Vecchi, Manuela M; Ferrari, Maurizio M; Pierotti, Marco A MA

Publication Date: 2021-08

Variant appearance in text: BRCA2: 3481_3491del

PubMed Link: 34022715

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.

Cancers

Turashvili, Gulisa G; Lazaro, Conxi C; Ying, Shengjie S; Charames, George G; Wong, Andrew A; Hamilton, Krista K; Yee, Denise D; Agro, Evangeline E; Chang, Martin M; Pollett, Aaron A; Lerner-Ellis, Jordan J

Publication Date: 2020-11-21

Variant appearance in text: BRCA2: 3481_3491del

PubMed Link: 33233347

Variant Present in the following documents:

• Main text
• cancers-12-03468.pdf

View BVdb publication page

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Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

Scientific Reports

De Talhouet, Solene S; Peron, Julien J; Vuilleumier, Aurelie A; Friedlaender, Alex A; Viassolo, Valeria V; Ayme, Aurélie A; Bodmer, Alexandre A; Treilleux, Isabelle I; Lang, Noemie N; Tille, Jean- Christophe JC; Chappuis, Pierre O PO; Buisson, Adrien A; Giraud, Sophie S; Lasset, Christine C; Bonadona, Valerie V; Trédan, Olivier O; Labidi-Galy, S Intidhar SI

Publication Date: 2020-04-27

Variant appearance in text: BRCA2: 3481_3491del

PubMed Link: 32341426

Variant Present in the following documents:

• 41598_2020_63759_MOESM1_ESM.pdf

View BVdb publication page

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Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.

European Journal Of Human Genetics : Ejhg

Tarabeux, Julien J; Zeitouni, Bruno B; Moncoutier, Virginie V; Tenreiro, Henrique H; Abidallah, Khadija K; Lair, Séverine S; Legoix-Né, Patricia P; Leroy, Quentin Q; Rouleau, Etienne E; Golmard, Lisa L; Barillot, Emmanuel E; Stern, Marc-Henri MH; Rio-Frio, Thomas T; Stoppa-Lyonnet, Dominique D; Houdayer, Claude C

Publication Date: 2014-04

Variant appearance in text: BRCA2: 3481_3491del

PubMed Link: 23942203

Variant Present in the following documents:

• Main text

View BVdb publication page

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