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

Autor:	Kim, Hye Sook, Lee, Soon Wook, Choi, Yoon Ji, Shin, Sang Won, Kim, Yeul Hong, Cho, Min Sun, Lee, Soon Nam, Park, Kyong Hwa
Jazyk:	angličtina
Rok vydání:	2014
Předmět:	BRCA1 gene endocrine system diseases Lymphoma Case Report Breast neoplasms skin and connective tissue diseases Ovarian neoplasms
Zdroj:	Cancer Research and Treatment : Official Journal of Korean Cancer Association
ISSN:	2005-9256 1598-2998
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::f3620419c37a563aacf6ab94002bb5f6 http://europepmc.org/articles/PMC4506095 Zobrazit plný text záznamu