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- Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma
- Hye Sook Kim, Soon Wook Lee, Yoon Ji Choi, Sang Won Shin, Yeul Hong Kim, Min Sun Cho, Soon Nam Lee, Kyong Hwa Park
- Cancer Res Treat. 2015;47(3):534-538. Published online October 17, 2014
- DOI: https://doi.org/10.4143/crt.2013.151
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ePub - We report a case of a 56-year-old woman with breast cancer, ovarian cancer, and diffuse large B-cell lymphoma with a BRCA1 gene mutation. Evidence is mounting that there is a large increase in the risk for hematologic malignancies among patients with genetic changes in the BRCA pathways. The genomic analysis demonstrated a frameshift mutation in the BRCA1 gene: 277_279delinsCC (Phe93fs). It is a novel BRCA1 mutation that has never been reported, and caused malignant lymphoma as well as breast and ovarian cancer.
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