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

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...

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Detalles Bibliográficos
Autores principales: Kim, Hye Sook, Lee, Soon Wook, Choi, Yoon Ji, Shin, Sang Won, Kim, Yeul Hong, Cho, Min Sun, Lee, Soon Nam, Park, Kyong Hwa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Cancer Association 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506095/
https://www.ncbi.nlm.nih.gov/pubmed/25483746
http://dx.doi.org/10.4143/crt.2013.151
Descripción
Sumario: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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