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: N/A

PubMed Link: 36922933

Variant Present in the following documents:

View BVdb publication page

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: BRCA2: 316+5G>C

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.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: 316+5G>C

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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SpliceVault predicts the precise nature of variant-associated mis-splicing.

Nature Genetics

Dawes, Ruebena R; Bournazos, Adam M AM; Bryen, Samantha J SJ; Bommireddipalli, Shobhana S; Marchant, Rhett G RG; Joshi, Himanshu H; Cooper, Sandra T ST

Publication Date: 2023-02-06

Variant appearance in text: BRCA2: 316+5G>C

PubMed Link: 36747048

Variant Present in the following documents:

• 41588_2022_1293_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

Cancer Research

Tubeuf, Hélène H; Caputo, Sandrine M SM; Sullivan, Teresa T; Rondeaux, Julie J; Krieger, Sophie S; Caux-Moncoutier, Virginie V; Hauchard, Julie J; Castelain, Gaia G; Fiévet, Alice A; Meulemans, Laëtitia L; Révillion, Françoise F; Léoné, Mélanie M; Boutry-Kryza, Nadia N; Delnatte, Capucine C; Guillaud-Bataille, Marine M; Cleveland, Linda L; Reid, Susan S; Southon, Eileen E; Soukarieh, Omar O; Drouet, Aurélie A; Di Giacomo, Daniela D; Vezain, Myriam M; Bonnet-Dorion, Françoise F; Bourdon, Violaine V; Larbre, Hélène H; Muller, Danièle D; Pujol, Pascal P; Vaz, Fátima F; Audebert-Bellanger, Séverine S; Colas, Chrystelle C; Venat-Bouvet, Laurence L; Solano, Angela R AR; Stoppa-Lyonnet, Dominique D; Houdayer, Claude C; Frebourg, Thierry T; Gaildrat, Pascaline P; Sharan, Shyam K SK; Martins, Alexandra A

Publication Date: 2020-09-01

Variant appearance in text: BRCA2: 316+5G>C

PubMed Link: 32641407

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Mesman, Romy L S RLS; Calléja, Fabienne M G R FMGR; de la Hoya, Miguel M; Devilee, Peter P; van Asperen, Christi J CJ; Vrieling, Harry H; Vreeswijk, Maaike P G MPG

Publication Date: 2020-08

Variant appearance in text: BRCA2: 316+5G>C

PubMed Link: 32398771

Variant Present in the following documents:

• Main text
• 41436_2020_814_MOESM1_ESM.pdf
• 41436_2020_Article_814.pdf

View BVdb publication page

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Bypass of premature stop codons and generation of functional BRCA2 by exon skipping.

Journal Of Human Genetics

Stauffer, Stacey S; Biswas, Kajal K; Sharan, Shyam K SK

Publication Date: 2020-09

Variant appearance in text: BRCA2: 316+5G>C

PubMed Link: 32393813

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 316+5G>C

PubMed Link: 29707112

Variant Present in the following documents:

• Main text
• oncotarget-09-17334-s001.pdf
• oncotarget-09-17334.pdf

View BVdb publication page

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Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Human Mutation

Vallée, Maxime P MP; Di Sera, Tonya L TL; Nix, David A DA; Paquette, Andrew M AM; Parsons, Michael T MT; Bell, Russel R; Hoffman, Andrea A; Hogervorst, Frans B L FB; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV

Publication Date: 2016-07

Variant appearance in text: BRCA2: 316+5G>C

PubMed Link: 26913838

Variant Present in the following documents:

• Main text
• HUMU-37-627.pdf
• HUMU-37-627-s003.xlsx, sheet 1
• HUMU-37-627-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

European Journal Of Human Genetics : Ejhg

Castéra, Laurent L; Krieger, Sophie S; Rousselin, Antoine A; Legros, Angélina A; Baumann, Jean-Jacques JJ; Bruet, Olivia O; Brault, Baptiste B; Fouillet, Robin R; Goardon, Nicolas N; Letac, Olivier O; Baert-Desurmont, Stéphanie S; Tinat, Julie J; Bera, Odile O; Dugast, Catherine C; Berthet, Pascaline P; Polycarpe, Florence F; Layet, Valérie V; Hardouin, Agnes A; Frébourg, Thierry T; Vaur, Dominique D

Publication Date: 2014-11

Variant appearance in text: BRCA2: 316+5G>C

PubMed Link: 24549055

Variant Present in the following documents:

• Main text

View BVdb publication page

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An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

Bmc Medical Genetics

Muller, Danièle D; Rouleau, Etienne E; Schultz, Inès I; Caputo, Sandrine S; Lefol, Cédrick C; Bièche, Ivan I; Caron, Olivier O; Noguès, Catherine C; Limacher, Jean Marc JM; Demange, Liliane L; Lidereau, Rosette R; Fricker, Jean Pierre JP; Abecassis, Joseph J

Publication Date: 2011-09-22

Variant appearance in text: BRCA2: 316+5G>C

PubMed Link: 21939546

Variant Present in the following documents:

• Main text
• 1471-2350-12-121.pdf

View BVdb publication page

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