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: 8219T>A; L2740*; rs80359070

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: 8219T>A; Leu2740Ter

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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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: 8219T>A; L2740X; rs80359070

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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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: BRCA2: L2740*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.xlsx, sheet 1

View BVdb publication page

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A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Npj Genomic Medicine

Biswas, Kajal K; Lipton, Gary B GB; Stauffer, Stacey S; Sullivan, Teresa T; Cleveland, Linda L; Southon, Eileen E; Reid, Susan S; Magidson, Valentin V; Iversen, Edwin S ES; Sharan, Shyam K SK

Publication Date: 2020-12-08

Variant appearance in text: BRCA2: L2740X

PubMed Link: 33293522

Variant Present in the following documents:

• Main text
• 41525_2020_158_MOESM1_ESM.pdf
• 41525_2020_Article_158.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: 8219T>A; Leu2740X

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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A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.

Cancers

Millan Catalan, Oliver O; Campos-Parra, Alma D AD; Vázquez-Romo, Rafael R; Cantú de León, David D; Jacobo-Herrera, Nadia N; Morales-González, Fermín F; López-Camarillo, César C; Rodríguez-Dorantes, Mauricio M; López-Urrutia, Eduardo E; Pérez-Plasencia, Carlos C

Publication Date: 2019-08-26

Variant appearance in text: BRCA2: Leu2740Ter; rs80359070

PubMed Link: 31454914

Variant Present in the following documents:

• Main text
• cancers-11-01246.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA2: 8219T>A; Leu2740Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

European Journal Of Human Genetics : Ejhg

Degrolard-Courcet, Emilie E; Sokolowska, Joanna J; Padeano, Marie-Martine MM; Guiu, Séverine S; Bronner, Myriam M; Chery, Carole C; Coron, Fanny F; Lepage, Côme C; Chapusot, Caroline C; Loustalot, Catherine C; Jouve, Jean-Louis JL; Hatem, Cyril C; Ferrant, Emmanuelle E; Martin, Laurent L; Coutant, Charles C; Baurand, Amandine A; Couillault, Gérard G; Delignette, Alexandra A; El Chehadeh, Salima S; Lizard, Sarab S; Arnould, Laurent L; Fumoleau, Pierre P; Callier, Patrick P; Mugneret, Francine F; Philippe, Christophe C; Frebourg, Thierry T; Jonveaux, Philippe P; Faivre, Laurence L

Publication Date: 2014-08

Variant appearance in text: BRCA2: 8219T>A

PubMed Link: 24301060

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

Journal Of Medical Genetics

Alter, Blanche P BP; Rosenberg, Philip S PS; Brody, Lawrence C LC

Publication Date: 2007-01

Variant appearance in text: N/A

PubMed Link: 16825431

Variant Present in the following documents:

View BVdb publication page

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