Publications:

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ATM kinase inhibitor AZD0156 in combination with irinotecan and 5-fluorouracil in preclinical models of colorectal cancer.

Bmc Cancer

Davis, S Lindsey SL; Hartman, Sarah J SJ; Bagby, Stacey M SM; Schlaepfer, Marina M; Yacob, Betelehem W BW; Tse, Tonia T; Simmons, Dennis M DM; Diamond, Jennifer R JR; Lieu, Christopher H CH; Leal, Alexis D AD; Cadogan, Elaine B EB; Hughes, Gareth D GD; Durant, Stephen T ST; Messersmith, Wells A WA; Pitts, Todd M TM

Publication Date: 2022-10-29

Variant appearance in text: BRCA2: H2248L

PubMed Link: 36309653

Variant Present in the following documents:

• 12885_2022_10084_MOESM1_ESM.pdf

View BVdb publication page

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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: H2248L

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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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: H2248L

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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: 6743A>T; His2248Leu

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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Identification of new putative driver mutations and predictors of disease evolution in chronic lymphocytic leukemia.

Blood Cancer Journal

Mosquera Orgueira, Adrián A; Antelo Rodríguez, Beatriz B; Díaz Arias, José Ángel JÁ; Bello López, José Luis JL

Publication Date: 2019-09-30

Variant appearance in text: BRCA2: 6743A>T; H2248L

PubMed Link: 31570692

Variant Present in the following documents:

• 41408_2019_243_MOESM1_ESM.xlsx, sheet 1

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: H2248L

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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BRCA2, EGFR, and NTRK mutations in mismatch repair-deficient colorectal cancers with MSH2 or MLH1 mutations.

Oncotarget

Deihimi, Safoora S; Lev, Avital A; Slifker, Michael M; Shagisultanova, Elena E; Xu, Qifang Q; Jung, Kyungsuk K; Vijayvergia, Namrata N; Ross, Eric A EA; Xiu, Joanne J; Swensen, Jeffrey J; Gatalica, Zoran Z; Andrake, Mark M; Dunbrack, Roland L RL; El-Deiry, Wafik S WS

Publication Date: 2017-06-20

Variant appearance in text: BRCA2: 6743A>T; H2248L

PubMed Link: 28591715

Variant Present in the following documents:

• Main text
• oncotarget-08-39945.pdf

View BVdb publication page

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