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: 298A>T; Lys100Ter; rs80358546

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: 298A>T; Lys100Ter

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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Mre11-Rad50 oligomerization promotes DNA double-strand break repair.

Nature Communications

Kissling, Vera M VM; Reginato, Giordano G; Bianco, Eliana E; Kasaciunaite, Kristina K; Tilma, Janny J; Cereghetti, Gea G; Schindler, Natalie N; Lee, Sung Sik SS; Guérois, Raphaël R; Luke, Brian B; Seidel, Ralf R; Cejka, Petr P; Peter, Matthias M

Publication Date: 2022-05-02

Variant appearance in text: BRCA2: K100X

PubMed Link: 35501303

Variant Present in the following documents:

• Main text
• 41467_2022_Article_29841.pdf

View BVdb publication page

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Phenethylamine is a substrate of monoamine oxidase B in the paraventricular thalamic nucleus.

Scientific Reports

Obata, Youhei Y; Kubota-Sakashita, Mie M; Kasahara, Takaoki T; Mizuno, Masafumi M; Nemoto, Takahiro T; Kato, Tadafumi T

Publication Date: 2022-01-07

Variant appearance in text: BRCA2: 298A>T

PubMed Link: 34996979

Variant Present in the following documents:

• 41598_2021_3885_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study.

Ecancermedicalscience

Miguel, Isália I; Rodrigues, Fátima F; Fragoso, Sofia S; Freixo, João J; Clara, Ana A; Luís, Ana A; Bento, Sandra S; Fernandes, Mariana M; Bacelar, Filipe F; Câmara, Sara S; Parreira, Joana J; Duarte, Teresa T; Rodrigues, Paula P; Santos, Sidónia S; Vaz, Fátima F

Publication Date: 2021

Variant appearance in text: BRCA2: 298A>T

PubMed Link: 34567246

Variant Present in the following documents:

• Main text
• can-15-1261.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: 298A>T; K100X; rs80358546

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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Single-molecule analysis reveals cooperative stimulation of Rad51 filament nucleation and growth by mediator proteins.

Molecular Cell

Belan, Ondrej O; Barroso, Consuelo C; Kaczmarczyk, Artur A; Anand, Roopesh R; Federico, Stefania S; O'Reilly, Nicola N; Newton, Matthew D MD; Maeots, Erik E; Enchev, Radoslav I RI; Martinez-Perez, Enrique E; Rueda, David S DS; Boulton, Simon J SJ

Publication Date: 2021-03-04

Variant appearance in text: BRCA2: K100X

PubMed Link: 33421363

Variant Present in the following documents:

• Main text

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: 298A>T; Lys100X

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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The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Scientific Reports

Palmero, Edenir Inêz EI; Carraro, Dirce Maria DM; Alemar, Barbara B; Moreira, Miguel Angelo Martins MAM; Ribeiro-Dos-Santos, Ândrea Â; Abe-Sandes, Kiyoko K; Galvão, Henrique Campos Reis HCR; Reis, Rui Manuel RM; de Pádua Souza, Cristiano C; Campacci, Natalia N; Achatz, Maria Isabel MI; Brianese, Rafael Canfield RC; da Cruz Formiga, Maria Nirvana MN; Makdissi, Fabiana Baroni FB; Vargas, Fernando Regla FR; Evangelista Dos Santos, Anna Cláudia AC; Seuanez, Hector N HN; Lobo de Souza, Kelly Rose KR; Netto, Cristina B O CBO; Santos-Silva, Patrícia P; da Silva, Gustavo Stumpf GS; Burbano, Rommel M R RMR; Santos, Sidney S; Assumpção, Paulo Pimentel PP; Bernardes, Izabel Maria Monteiro IMM; Machado-Lopes, Taisa Manuela Bonfim TMB; Bomfim, Thais Ferreira TF; Toralles, Maria Betânia Pereira MBP; Nascimento, Ivana I; Garicochea, Bernardo B; Simon, Sergio D SD; Noronha, Simone S; de Lima, Fernanda Teresa FT; Chami, Anisse Marques AM; Bittar, Camila Matzenbacher CM; Bines, Jose J; Artigalas, Osvaldo O; Esteves-Diz, Maria Del Pilar MDP; Lajus, Tirzah Braz Petta TBP; Gifoni, Ana Carolina Leite Vieira Costa ACLVC; Guindalini, Rodrigo S C RSC; Cintra, Terezinha Sarquis TS; Schwartz, Ida V D IVD; Bernardi, Pricila P; Miguel, Diego D; Nogueira, Sonia Tereza Dos Santos STDS; Herzog, Josef J; Weitzel, Jeffrey N JN; Ashton-Prolla, Patricia P

Publication Date: 2018-06-15

Variant appearance in text: BRCA2: 298A>T

PubMed Link: 29907814

Variant Present in the following documents:

• Main text
• 41598_2018_27315_MOESM1_ESM.xlsx, sheet 2
• 41598_2018_Article_27315.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: 298A>T; Lys100Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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