title: Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma.
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.
authors.affiliation: Division of Oncology/Hematology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.
authors.forename: Hye Sook
authors.initials: HS
authors.lastname: Kim
authors.affiliation: Division of Oncology/Hematology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.
authors.forename: Soon Wook
authors.initials: SW
authors.lastname: Lee
authors.affiliation: Division of Oncology/Hematology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.
authors.forename: Yoon Ji
authors.initials: YJ
authors.lastname: Choi
authors.affiliation: Division of Oncology/Hematology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.
authors.forename: Sang Won
authors.initials: SW
authors.lastname: Shin
authors.affiliation: Division of Oncology/Hematology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.
authors.forename: Yeul Hong
authors.initials: YH
authors.lastname: Kim
authors.affiliation: Department of Pathology, Ewha Womans University School of Medicine, Seoul, Korea.
authors.forename: Min Sun
authors.initials: MS
authors.lastname: Cho
authors.affiliation: Division of Hematology-Oncology, Department of Medicine, Ewha Womans University School of Medicine, Seoul, Korea.
authors.forename: Soon Nam
authors.initials: SN
authors.lastname: Lee
authors.affiliation: Division of Oncology/Hematology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.
authors.forename: Kyong Hwa
authors.initials: KH
authors.lastname: Park
keywords: BRCA1 gene; Breast neoplasms; Lymphoma; Ovarian neoplasms