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: BRCA1: 5280C>A

PubMed Link: 34541275

Variant Present in the following documents:

• Main text
• main.pdf

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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5280C>A; I1760=

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page