Publications:

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: BRCA1: 4384G>T; Glu1462X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.

Cancers

Koczkowska, Magdalena M; Krawczynska, Natalia N; Stukan, Maciej M; Kuzniacka, Alina A; Brozek, Izabela I; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Biernat, Wojciech W; Kozlowski, Piotr P; Limon, Janusz J; Wasag, Bartosz B; Ratajska, Magdalena M

Publication Date: 2018-11-14

Variant appearance in text: BRCA1: Glu1462*

PubMed Link: 30441849

Variant Present in the following documents:

• Main text
• cancers-10-00442.pdf

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Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.

Oncotarget

Ratajska, Magdalena M; Koczkowska, Magdalena M; Żuk, Monika M; Gorczyński, Adam A; Kuźniacka, Alina A; Stukan, Maciej M; Biernat, Wojciech W; Limon, Janusz J; Wasąg, Bartosz B

Publication Date: 2017-11-24

Variant appearance in text: BRCA1: Glu1462Ter

PubMed Link: 29254167

Variant Present in the following documents:

• Main text
• oncotarget-08-101325.pdf

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Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.

Cancer Medicine

Koczkowska, Magdalena M; Zuk, Monika M; Gorczynski, Adam A; Ratajska, Magdalena M; Lewandowska, Marzena M; Biernat, Wojciech W; Limon, Janusz J; Wasag, Bartosz B

Publication Date: 2016-07

Variant appearance in text: BRCA1: Glu1462*

PubMed Link: 27167707

Variant Present in the following documents:

• Main text
• CAM4-5-1640.pdf
• CAM4-5-1640-s001.pdf

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