Publications:

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: 68_316del; Asp23_Leu105del

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance

Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM

Publication Date: 2022-05

Variant appearance in text: BRCA2: 68_313del; D23_L105delinsV

PubMed Link: 35165121

Variant Present in the following documents:

• LSA-2021-01263_TableS2.xlsx, sheet 2

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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: 68_316del; Asp23_Leu105del

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.

Frontiers In Oncology

Lattimore, Vanessa L VL; Pearson, John F JF; Currie, Margaret J MJ; Spurdle, Amanda B AB; , ; Robinson, Bridget A BA; Walker, Logan C LC

Publication Date: 2018

Variant appearance in text: BRCA2: 68_631del

PubMed Link: 29774201

Variant Present in the following documents:

• table_7.xlsx, sheet 1

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Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.

Oncotarget

Caputo, Sandrine M SM; Léone, Mélanie M; Damiola, Francesca F; Ehlen, Asa A; Carreira, Aura A; Gaidrat, Pascaline P; Martins, Alexandra A; Brandão, Rita D RD; Peixoto, Ana A; Vega, Ana A; Houdayer, Claude C; Delnatte, Capucine C; Bronner, Myriam M; Muller, Danièle D; Castera, Laurent L; Guillaud-Bataille, Marine M; Søkilde, Inge I; Uhrhammer, Nancy N; Demontety, Sophie S; Tubeuf, Hélène H; Castelain, Gaïa G; , ; Jensen, Uffe Birk UB; Petitalot, Ambre A; Krieger, Sophie S; Lefol, Cédrick C; Moncoutier, Virginie V; Boutry-Kryza, Nadia N; Nielsen, Henriette Roed HR; Sinilnikova, Olga O; Stoppa-Lyonnet, Dominique D; Spurdle, Amanda B AB; Teixeira, Manuel R MR; Coulet, Florence F; Thomassen, Mads M; Rouleau, Etienne E

Publication Date: 2018-04-03

Variant appearance in text: BRCA2: 68_316del

PubMed Link: 29707112

Variant Present in the following documents:

• Main text
• oncotarget-09-17334.pdf

View BVdb publication page