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

doi:10.4143/crt.2013.151

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

Cancer Res Treat. 2015 Jul;47(3):534-8. doi: 10.4143/crt.2013.151. Epub 2014 Oct 17.

Authors

Hye Sook Kim¹, Soon Wook Lee¹, Yoon Ji Choi¹, Sang Won Shin¹, Yeul Hong Kim¹, Min Sun Cho², Soon Nam Lee³, Kyong Hwa Park¹

Affiliations

¹ Division of Oncology/Hematology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea.
² Department of Pathology, Ewha Womans University School of Medicine, Seoul, Korea.
³ Division of Hematology-Oncology, Department of Medicine, Ewha Womans University School of Medicine, Seoul, Korea.

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.

Keywords: BRCA1 gene; Breast neoplasms; Lymphoma; Ovarian neoplasms.