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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

Title
Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma
Authors
Kim, Hye SookLee, Soon WookChoi, Yoon JiShin, Sang WonKim, Yeul HongCho, Min SunLee, Soon NamPark, Kyong Hwa
Ewha Authors
이순남조민선
SCOPUS Author ID
이순남scopus; 조민선scopus
Issue Date
2015
Journal Title
CANCER RESEARCH AND TREATMENT
ISSN
1598-2998JCR Link2005-9256JCR Link
Citation
vol. 47, no. 3, pp. 534 - 538
Keywords
BRCA1 geneBreast neoplasmsLymphomaOvarian neoplasms
Publisher
KOREAN CANCER ASSOCIATION
Indexed
SCIE; SCOPUS; KCI WOS scopus
Abstract
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.
DOI
10.4143/crt.2013.151
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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