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KMID : 0939920150470030534
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대한암학회지
2015 Volume.47 No. 3 p.534 ~ p.538
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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 LymphomaCancer Research and Treatment
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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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Abstract
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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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KEYWORD
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BRCA1 gene, Breast neoplasms, Lymphoma, Ovarian neoplasms
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