Publications:

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: H2563N

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: 7687C>A; His2563Asn

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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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: H2563N

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets.

Cancer Discovery

Brastianos, Priscilla K PK; Carter, Scott L SL; Santagata, Sandro S; Cahill, Daniel P DP; Taylor-Weiner, Amaro A; Jones, Robert T RT; Van Allen, Eliezer M EM; Lawrence, Michael S MS; Horowitz, Peleg M PM; Cibulskis, Kristian K; Ligon, Keith L KL; Tabernero, Josep J; Seoane, Joan J; Martinez-Saez, Elena E; Curry, William T WT; Dunn, Ian F IF; Paek, Sun Ha SH; Park, Sung-Hye SH; McKenna, Aaron A; Chevalier, Aaron A; Rosenberg, Mara M; Barker, Frederick G FG; Gill, Corey M CM; Van Hummelen, Paul P; Thorner, Aaron R AR; Johnson, Bruce E BE; Hoang, Mai P MP; Choueiri, Toni K TK; Signoretti, Sabina S; Sougnez, Carrie C; Rabin, Michael S MS; Lin, Nancy U NU; Winer, Eric P EP; Stemmer-Rachamimov, Anat A; Meyerson, Matthew M; Garraway, Levi L; Gabriel, Stacey S; Lander, Eric S ES; Beroukhim, Rameen R; Batchelor, Tracy T TT; Baselga, Jose J; Louis, David N DN; Getz, Gad G; Hahn, William C WC

Publication Date: 2015-11

Variant appearance in text: BRCA2: H2563N

PubMed Link: 26410082

Variant Present in the following documents:

• Main text

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