Publications:

Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.

Journal Of Human Genetics

Aref-Eshghi, Erfan E; McGee, Jacob D JD; Pedro, Victor P VP; Kerkhof, Jennifer J; Stuart, Alan A; Ainsworth, Peter J PJ; Lin, Hanxin H; Volodarsky, Michael M; McLachlin, Catherine Meg CM; Sadikovic, Bekim B

Publication Date: 2020-10

Variant appearance in text: BRCA2: 3587T>A; Leu1196*

PubMed Link: 32483276

Variant Present in the following documents:

• Main text
• 10038_2020_Article_780.pdf

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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: 3587T>A; Leu1196X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page