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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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
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author Kim, Hye Sook
Lee, Soon Wook
Choi, Yoon Ji
Shin, Sang Won
Kim, Yeul Hong
Cho, Min Sun
Lee, Soon Nam
Park, Kyong Hwa
author_facet Kim, Hye Sook
Lee, Soon Wook
Choi, Yoon Ji
Shin, Sang Won
Kim, Yeul Hong
Cho, Min Sun
Lee, Soon Nam
Park, Kyong Hwa
author_sort Kim, Hye Sook
collection PubMed
description 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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spelling pubmed-45060952015-07-21 Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma Kim, Hye Sook Lee, Soon Wook Choi, Yoon Ji Shin, Sang Won Kim, Yeul Hong Cho, Min Sun Lee, Soon Nam Park, Kyong Hwa Cancer Res Treat Case Report 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. Korean Cancer Association 2015-07 2014-10-17 /pmc/articles/PMC4506095/ /pubmed/25483746 http://dx.doi.org/10.4143/crt.2013.151 Text en Copyright © 2015 by the Korean Cancer Association This is an Open-Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kim, Hye Sook
Lee, Soon Wook
Choi, Yoon Ji
Shin, Sang Won
Kim, Yeul Hong
Cho, Min Sun
Lee, Soon Nam
Park, Kyong Hwa
Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma
title Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma
title_full Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma
title_fullStr Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma
title_full_unstemmed Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma
title_short Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma
title_sort novel germline mutation of brca1 gene in a 56-year-old woman with breast cancer, ovarian cancer, and diffuse large b-cell lymphoma
topic Case Report
url 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
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