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LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not Familial Cancer (2010) 9:289–290 DOI 10.1007/s10689-009-9318-9 LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not • • • E. Beristain I. Guerra N. Vidaurrazaga J. Burgos-Bretones M. I. Tejada Published online: 7 January 2010 Springer Science+Business Media B.V. 2010 Dear editor, variants in order to use this feature to determine, as the authors state, the pathogenicity or neutrality of the I have read with interest the article by Dworkin et al. [1] unclassified variants. entitled ‘‘Methylation not a frequent ‘second hit’ in tumors DNA was extracted from paraffin-embedded breast with germline BRCA mutation’’ published in your journal. tumor tissue and adjacent non-tumor tissue taken from 15 This article states that loss of the wild type allele is com- patients. DNA fragments including the 17 different mon in tumors in inherited germline mutation carriers. In abnormalities found in these 15 patients were amplified fact, these authors used this criterion to assess whether an (Table 1). unclassified variant was pathological or neutral, as previ- Age of samples and the hospital providing them were ously reported by other authors (Osorio et al. [2]; Chene- assessed, in case these variables interfered with the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Familial Cancer Springer Journals

LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not

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References (7)

Publisher
Springer Journals
Copyright
Copyright © 2010 by Springer Science+Business Media B.V.
Subject
Biomedicine; Biomedicine general; Epidemiology; Human Genetics ; Cancer Research
ISSN
1389-9600
eISSN
1573-7292
DOI
10.1007/s10689-009-9318-9
pmid
20054658
Publisher site
See Article on Publisher Site

Abstract

Familial Cancer (2010) 9:289–290 DOI 10.1007/s10689-009-9318-9 LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not • • • E. Beristain I. Guerra N. Vidaurrazaga J. Burgos-Bretones M. I. Tejada Published online: 7 January 2010 Springer Science+Business Media B.V. 2010 Dear editor, variants in order to use this feature to determine, as the authors state, the pathogenicity or neutrality of the I have read with interest the article by Dworkin et al. [1] unclassified variants. entitled ‘‘Methylation not a frequent ‘second hit’ in tumors DNA was extracted from paraffin-embedded breast with germline BRCA mutation’’ published in your journal. tumor tissue and adjacent non-tumor tissue taken from 15 This article states that loss of the wild type allele is com- patients. DNA fragments including the 17 different mon in tumors in inherited germline mutation carriers. In abnormalities found in these 15 patients were amplified fact, these authors used this criterion to assess whether an (Table 1). unclassified variant was pathological or neutral, as previ- Age of samples and the hospital providing them were ously reported by other authors (Osorio et al. [2]; Chene- assessed, in case these variables interfered with the

Journal

Familial CancerSpringer Journals

Published: Jan 7, 2010

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