Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: BRCA2: I1364L

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

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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: I1364L

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

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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: 4090A>T; Ile1364Leu

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Journal For Immunotherapy Of Cancer

Labriola, Matthew Kyle MK; Zhu, Jason J; Gupta, Rajan T RT; McCall, Shannon S; Jackson, Jennifer J; Kong, Eric F EF; White, James R JR; Cerqueira, Gustavo G; Gerding, Kelly K; Simmons, John K JK; George, Daniel D; Zhang, Tian T

Publication Date: 2020-03

Variant appearance in text: BRCA2: I1364L

PubMed Link: 32221016

Variant Present in the following documents:

• jitc-2019-000319supp001.xlsx, sheet 1

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: BRCA2: I1364L

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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A highly efficient and faithful MDS patient-derived xenotransplantation model for pre-clinical studies.

Nature Communications

Song, Yuanbin Y; Rongvaux, Anthony A; Taylor, Ashley A; Jiang, Tingting T; Tebaldi, Toma T; Balasubramanian, Kunthavai K; Bagale, Arun A; Terzi, Yunus Kasim YK; Gbyli, Rana R; Wang, Xiaman X; Fu, Xiaoying X; Gao, Yimeng Y; Zhao, Jun J; Podoltsev, Nikolai N; Xu, Mina M; Neparidze, Natalia N; Wong, Ellice E; Torres, Richard R; Bruscia, Emanuela M EM; Kluger, Yuval Y; Manz, Markus G MG; Flavell, Richard A RA; Halene, Stephanie S

Publication Date: 2019-01-21

Variant appearance in text: BRCA2: I1364L

PubMed Link: 30664659

Variant Present in the following documents:

• 41467_2018_Article_8166.pdf

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: BRCA2: I1364L

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women.

Journal Of Medical Genetics

Haffty, B G BG; Silber, A A; Matloff, E E; Chung, J J; Lannin, D D

Publication Date: 2006-02

Variant appearance in text: BRCA2: I1364L

PubMed Link: 15983021

Variant Present in the following documents:

• Main text

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