BRCA2 mutations and triple-negative breast cancer.

Recently, BRCA1 germline mutations were found in a high proportion (14-34%) of patients with triple-negative breast cancer (TNBC). BRCA2 was either not analyzed or showed much lower mutation frequencies. Therefore, we screened a group of TNBC patients (n = 30) of white European descent for mutations...

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Autores principales: Peter Meyer, Katharina Landgraf, Bernhard Högel, Wolfgang Eiermann, Beyhan Ataseven
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Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2012
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Acceso en línea:https://doaj.org/article/d5042e952a864838ab069725a38f8820
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spelling oai:doaj.org-article:d5042e952a864838ab069725a38f88202021-11-18T07:16:50ZBRCA2 mutations and triple-negative breast cancer.1932-620310.1371/journal.pone.0038361https://doaj.org/article/d5042e952a864838ab069725a38f88202012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22666503/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Recently, BRCA1 germline mutations were found in a high proportion (14-34%) of patients with triple-negative breast cancer (TNBC). BRCA2 was either not analyzed or showed much lower mutation frequencies. Therefore, we screened a group of TNBC patients (n = 30) of white European descent for mutations in BRCA2 as well as in BRCA1. Cases were unselected for age of disease-onset (median age at breast cancer diagnosis was 58 years, ranging from 37 to 74 years), family history of cancer and BRCA1 and BRCA2 mutation status. Half of the patients (15/30) showed a family history of breast and/or ovarian cancer. A high frequency of deleterious germline mutations was observed in BRCA2 (5/30; 16.7%), and only one case showed a BRCA1 mutation (3.3%). Although the study group was small, these results point to BRCA2 mutations being important in TNBC.Peter MeyerKatharina LandgrafBernhard HögelWolfgang EiermannBeyhan AtasevenPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 5, p e38361 (2012)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Peter Meyer
Katharina Landgraf
Bernhard Högel
Wolfgang Eiermann
Beyhan Ataseven
BRCA2 mutations and triple-negative breast cancer.
description Recently, BRCA1 germline mutations were found in a high proportion (14-34%) of patients with triple-negative breast cancer (TNBC). BRCA2 was either not analyzed or showed much lower mutation frequencies. Therefore, we screened a group of TNBC patients (n = 30) of white European descent for mutations in BRCA2 as well as in BRCA1. Cases were unselected for age of disease-onset (median age at breast cancer diagnosis was 58 years, ranging from 37 to 74 years), family history of cancer and BRCA1 and BRCA2 mutation status. Half of the patients (15/30) showed a family history of breast and/or ovarian cancer. A high frequency of deleterious germline mutations was observed in BRCA2 (5/30; 16.7%), and only one case showed a BRCA1 mutation (3.3%). Although the study group was small, these results point to BRCA2 mutations being important in TNBC.
format article
author Peter Meyer
Katharina Landgraf
Bernhard Högel
Wolfgang Eiermann
Beyhan Ataseven
author_facet Peter Meyer
Katharina Landgraf
Bernhard Högel
Wolfgang Eiermann
Beyhan Ataseven
author_sort Peter Meyer
title BRCA2 mutations and triple-negative breast cancer.
title_short BRCA2 mutations and triple-negative breast cancer.
title_full BRCA2 mutations and triple-negative breast cancer.
title_fullStr BRCA2 mutations and triple-negative breast cancer.
title_full_unstemmed BRCA2 mutations and triple-negative breast cancer.
title_sort brca2 mutations and triple-negative breast cancer.
publisher Public Library of Science (PLoS)
publishDate 2012
url https://doaj.org/article/d5042e952a864838ab069725a38f8820
work_keys_str_mv AT petermeyer brca2mutationsandtriplenegativebreastcancer
AT katharinalandgraf brca2mutationsandtriplenegativebreastcancer
AT bernhardhogel brca2mutationsandtriplenegativebreastcancer
AT wolfgangeiermann brca2mutationsandtriplenegativebreastcancer
AT beyhanataseven brca2mutationsandtriplenegativebreastcancer
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