Publications:

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Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports

Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB

Publication Date: 2022-06-21

Variant appearance in text: BRCA2: F2293L

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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BRCA2 binding through a cryptic repeated motif to HSF2BP oligomers does not impact meiotic recombination.

Nature Communications

Ghouil, Rania R; Miron, Simona S; Koornneef, Lieke L; Veerman, Jasper J; Paul, Maarten W MW; Le Du, Marie-Hélène MH; Sleddens-Linkels, Esther E; van Rossum-Fikkert, Sari E SE; van Loon, Yvette Y; Felipe-Medina, Natalia N; Pendas, Alberto M AM; Maas, Alex A; Essers, Jeroen J; Legrand, Pierre P; Baarends, Willy M WM; Kanaar, Roland R; Zinn-Justin, Sophie S; Zelensky, Alex N AN

Publication Date: 2021-07-29

Variant appearance in text: BRCA2: F2293L

PubMed Link: 34326328

Variant Present in the following documents:

• 41467_2021_24871_MOESM2_ESM.pdf
• 41467_2021_Article_24871.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: 6879T>A; Phe2293Leu

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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Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.

Cancers

Quezada Urban, Rosalía R; Díaz Velásquez, Clara Estela CE; Gitler, Rina R; Rojo Castillo, María Patricia MP; Sirota Toporek, Max M; Figueroa Morales, Andrea A; Moreno García, Oscar O; García Esquivel, Lizbeth L; Torres Mejía, Gabriela G; Dean, Michael M; Delgado Enciso, Iván I; Ochoa Díaz López, Héctor H; Rodríguez León, Fernando F; Jan, Virginia V; Garzón Barrientos, Víctor Hugo VH; Ruiz Flores, Pablo P; Espino Silva, Perla Karina PK; Haro Santa Cruz, Jorge J; Martínez Gregorio, Héctor H; Rojas Jiménez, Ernesto Arturo EA; Romero Cruz, Luis Enrique LE; Méndez Catalá, Claudia Fabiola CF; Álvarez Gómez, Rosa María RM; Fragoso Ontiveros, Verónica V; Herrera, Luis Alonso LA; Romieu, Isabelle I; Terrazas, Luis Ignacio LI; Chirino, Yolanda Irasema YI; Frecha, Cecilia C; Oliver, Javier J; Perdomo, Sandra S; Vaca Paniagua, Felipe F

Publication Date: 2018-09-27

Variant appearance in text: BRCA2: F2293L

PubMed Link: 30262796

Variant Present in the following documents:

• cancers-10-00361-s001.pdf

View BVdb publication page

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

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

Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ

Publication Date: 2019-01

Variant appearance in text: BRCA2: F2293L

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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A new assay for functional screening of BRCA2 linker region mutations identifies variants that alter chemoresistance to cisplatin.

Experimental Cell Research

Warren, Curtis R CR; Catts, Zohra Ali-Khan ZA; Farach-Carson, Mary C MC

Publication Date: 2011-09-10

Variant appearance in text: BRCA2: F2293L

PubMed Link: 21741379

Variant Present in the following documents:

• Main text

View BVdb publication page

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