Publications:

Tumor BRCA testing can reveal a high tumor mutational burden related to POLE pathogenic variants.

Gynecologic Oncology Reports

Villy, M-C MC; Masliah-Planchon, J J; Melaabi, S S; Trabelsi Grati, O O; Girard, E E; Bataillon, G G; Vincent-Salomon, A A; Le Gall, J J; Golmard, L L; Stoppa-Lyonnet, D D; Bieche, I I; Colas, C C

Publication Date: 2021-08

Variant appearance in text: BRCA2: 3337G>T; Glu1113*

PubMed Link: 34541275

Variant Present in the following documents:

• Main text
• main.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: 3337G>T; Glu1113X

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: BRCA2: 3337G>T; E1113*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients.

Chonnam Medical Journal

Kim, Hee Nam HN; Shin, Min-Ho MH; Lee, Ran R; Park, Min-Ho MH; Kweon, Sun-Seog SS

Publication Date: 2019-05

Variant appearance in text: BRCA2: Glu1113Ter

PubMed Link: 31161121

Variant Present in the following documents:

• Main text
• cmj-55-99.pdf

View BVdb publication page