Screening breast cancer patients forATM mutations and polymorphisms by using denaturing high-performance liquid chromatography

2001 ◽  
Vol 38 (2-3) ◽  
pp. 200-208 ◽  
Author(s):  
David P. Atencio ◽  
Christopher M. Iannuzzi ◽  
Sheryl Green ◽  
Richard G. Stock ◽  
Jonine L. Bernstein ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Cancer Patients ◽  
High Performance ◽  
Breast Cancer Patients

Comparison of Auto and Manual Integration for Peptidomics Data Based on High Performance Liquid Chromatography Coupled with Mass Spectrometry

2011 ◽  
Vol 340 ◽  
pp. 266-272
Author(s):  
Hai Yan Fang ◽  
Guo Ping Zhang ◽  
Feng Gao ◽  
Xiao Ping Zhao ◽  
Peng Shen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mass Spectrometry ◽  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Data Processing ◽  
High Performance ◽  
Breast Cancer Patients ◽  
Blood Samples ◽  
Almost All ◽  
Potential Biomarkers

A growing number of literatures appealed the necessity to develop methods of data processing for peptidome profiling and analysis. Although some methods had been established, many of them focused on the development and application of auto integration softwares. In this work, we paid attention to comparison of auto integration by software and manual integration for peptidomics data based on high performance liquid chromatography coupled with mass spectrometry (HPLC-MS). Two data processing procedures, auto integration by XCMS and manual integration, were applied in processing of peptidomics data based on HPLC-MS from cerebral infarction and breast cancer patients blood samples, respectively. And, it was found that almost all peaks contained in chromatograms could be picked out by XCMS, but the areas of these peaks were greatly different from those given by manual integration. Furthermore, t-test (2-tailed) results of the two data processing procedures were also different and different potential biomarkers were obtained. The results of this work will provide helpful reference for data processing of peptidomics research.

scholarly journals Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Muhammad Usman Rashid ◽  
Noor Muhammad ◽  
Faiz Ali Khan ◽  
Umara Shehzad ◽  
Humaira Naeemi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Early Onset ◽  
Familial Breast Cancer ◽  
High Performance ◽  
Breast Cancer Patients ◽  
Germline Variants ◽  
Variants Of Unknown Significance ◽  
Breast Cancer Predisposition ◽  
Novel Variants

Abstract Background The RecQ Like Helicase (RECQL) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumor. Here, we investigated the contribution of pathogenic RECQL germline variants to hereditary breast cancer in early-onset and familial breast cancer patients from Pakistan. Methods Comprehensive RECQL variant analysis was performed in 302 BRCA1 and BRCA2 negative patients with ER and/or PR positive breast tumors using denaturing high-performance liquid chromatography followed by DNA sequencing. Novel variants were classified using Sherloc guidelines. Results One novel pathogenic protein-truncating variant (p.W75*) was identified in a 37-year-old familial breast cancer patient. The pathogenic variant frequencies were 0.3% (1/302) in early-onset and familial breast cancer patients and 0.8% (1/133) in familial patients. Further, three novel variants of unknown significance, p.I141F, p.S182S, and p.C475C, were identified in familial breast cancer patients at the age of 47, 68, and 47 respectively. All variants were absent in 250 controls. Conclusions Our data suggest that the RECQL gene plays a negligible role in breast cancer predisposition in Pakistan.

CYP2D6 genotyping in breast cancer patients by liquid chromatography-electrospray ionization mass spectrometry

2011 ◽  
Vol 6 (3) ◽  
Author(s):  
Beate Beer ◽  
Sabine Plattner ◽  
Michael Hubalek ◽  
Anne Oberguggenberger ◽  
Monika Sztankay ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Mass Spectrometry ◽  
Liquid Chromatography ◽  
Electrospray Ionization ◽  
Cancer Patients ◽  
Clinical Relevance ◽  
Cost Effective ◽  
Cyp2d6 Genotype ◽  
Breast Cancer Patients ◽  
Cyp2d6 Gene

AbstractThe application of cytochrome P450 2D6 (CYP2D6) genotyping to allow a personalized treatment approach for breast cancer patients undergoing endocrine therapy has been repeatedly discussed. However, the actual clinical relevance of the CYP2D6 genotype in the endocrine treatment of breast cancer still remains to be elucidated. A major prerequisite for the successful and valid evaluation of the CYP2D6 genotype with regard to its pharmacokinetic and clinical relevance is the availability of a comprehensive, accurate and cost-effective CYP2D6 genotyping strategy. Herein we present a CYP2D6 genotyping assay employing polymerase chain reaction (PCR)-ion pair reversed-phase high-performance liquid chromatography-electrospray ionization time-of-flight mass spectrometry (ICEMS). The genotyping strategy involves the simultaneous amplification of nine variable regions within the CYP2D6 gene by a two-step PCR protocol and the direct analysis of the generated PCR amplicons by ICEMS. The nucleotide composition profiles generated by ICEMS enable the differentiation of 37 of the 80 reported CYP2D6 alleles. The assay was applied to type the CYP2D6 gene in 199 Austrian individuals including 106 breast cancer patients undergoing tamoxifen treatment. The developed method turned out to be a highly applicable, robust and cost-effective approach, enabling an economical CYP2D6 testing for large patient cohorts.

Determination of Doxorubicin and Doxorubicinol in Plasma of Cancer Patients by High-Performance Liquid Chromatography

1999 ◽  
Vol 266 (2) ◽  
pp. 216-221 ◽  
Author(s):  
Peter de Bruijn ◽  
Jaap Verweij ◽  
Walter J. Loos ◽  
Herman J. Kolker ◽  
André S.T. Planting ◽  
...  
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Cancer Patients ◽  
High Performance
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