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: E342K

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: 1024G>A; Glu342Lys

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: E342K

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.

Respiratory Research

Lara, Beatriz B; Martínez, Maria Teresa MT; Blanco, Ignacio I; Hernández-Moro, Cristina C; Velasco, Eladio A EA; Ferrarotti, Ilaria I; Rodriguez-Frias, Francisco F; Perez, Laura L; Vazquez, Irene I; Alonso, Javier J; Posada, Manuel M; Martínez-Delgado, Beatriz B

Publication Date: 2014-10-07

Variant appearance in text: BRCA2: Glu342Lys

PubMed Link: 25287719

Variant Present in the following documents:

• 12931_2014_Article_125.pdf

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Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.

The Journal Of Molecular Diagnostics : Jmd

Barker, Shannon D SD; Bale, Sherri S; Booker, Jessica J; Buller, Arlene A; Das, Soma S; Friedman, Kenneth K; Godwin, Andrew K AK; Grody, Wayne W WW; Highsmith, Edward E; Kant, Jeffery A JA; Lyon, Elaine E; Mao, Rong R; Monaghan, Kristin G KG; Payne, Deborah A DA; Pratt, Victoria M VM; Schrijver, Iris I; Shrimpton, Antony E AE; Spector, Elaine E; Telatar, Milhan M; Toji, Lorraine L; Weck, Karen K; Zehnbauer, Barbara B; Kalman, Lisa V LV

Publication Date: 2009-11

Variant appearance in text: BRCA2: Glu342Lys

PubMed Link: 19767587

Variant Present in the following documents:

• Main text

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