Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma

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...

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Veröffentlicht in:Cancer research and treatment 2015, 47(3), , pp.534-538
Hauptverfasser: Kim, Hye Sook, Lee, Soon Wook, Choi, Yoon Ji, Shin, Sang Won, Kim, Yeul Hong, Cho, Min Sun, Lee, Soon Nam, Park, Kyong Hwa
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Sprache:eng
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Zusammenfassung: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.
ISSN:1598-2998
2005-9256
DOI:10.4143/crt.2013.151