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

Author: Hye Sook KIM ¹ ; Soon Wook LEE ; Yoon Ji CHOI ; Sang Won SHIN ; Yeul Hong KIM ; Min Sun CHO ; Soon Nam LEE ; Kyong Hwa PARK
Author Information

1. Division of Oncology/Hematology, Department of Internal Medicine, Korea University College of Medicine, Seoul, Korea. khpark@korea.ac.kr
Publication Type:Case Report
Keywords: BRCA1 gene; Breast neoplasms; Lymphoma; Ovarian neoplasms
MeSH: Breast; Breast Neoplasms*; Female; Frameshift Mutation; Genes, BRCA1*; Germ-Line Mutation*; Hematologic Neoplasms; Humans; Lymphoma; Lymphoma, B-Cell*; Middle Aged*; Ovarian Neoplasms*
From:Cancer Research and Treatment 2015;47(3):534-538
CountryRepublic of Korea
Language:English
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.