scholarly journals Influence of decalcification procedures on immunohistochemistry and molecular pathology in breast cancer

2016 ◽  
Vol 29 (12) ◽  
pp. 1460-1470 ◽  
Author(s):  
Willemijne A M E Schrijver ◽  
Petra van der Groep ◽  
Laurien DC Hoefnagel ◽  
Natalie D ter Hoeve ◽  
Ton Peeters ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Molecular Pathology

scholarly journals Sentinel node staging for breast cancer: intraoperative molecular pathology overcomes conventional histologic sampling errors

2007 ◽  
Vol 194 (4) ◽  
pp. 426-432 ◽  
Author(s):  
Peter Blumencranz ◽  
Pat W. Whitworth ◽  
Kenneth Deck ◽  
Anne Rosenberg ◽  
Douglas Reintgen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Sentinel Node ◽  
Molecular Pathology ◽  
Sampling Errors

Male breast cancer: Molecular pathology and demographics of a case series

2004 ◽  
Vol 22 (14_suppl) ◽  
pp. 9723-9723
Author(s):  
S. Pant ◽  
S. Venkatappa ◽  
S. Sethi ◽  
S. Lightfoot ◽  
A. Tfayli ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Male Breast Cancer ◽  
Molecular Pathology ◽  
Case Series ◽  
Male Breast

scholarly journals Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines

2019 ◽  
Vol 19 (4) ◽  
pp. 324
Author(s):  
Angela Brown ◽  
Mansour Zamanpoor ◽  
Donald R. Love ◽  
Debra O. Prosser
Keyword(s):  
Breast Cancer ◽  
New Zealand ◽  
Molecular Pathology ◽  
Brca1 Gene ◽  
Medical Genetics ◽  
Splice Donor Site ◽  
Molecular Diagnostic ◽  
Gene Variants ◽  
Genetics And Genomics

Objectives: Molecular diagnostic laboratories screen for mutations in disease-causing genes in order to confirm a clinical diagnosis. The classification of DNA variants as ‘pathogenic’ or ‘likely pathogenic’ mutations creates a workflow bottleneck, which becomes increasingly challenging as greater number of genes are screened. The classification challenge is also acute if there are conflicting reports regarding pathogenicity and differing classification criteria between laboratories. This study aimed to compare two procedures for the classification of variants in the breast cancer (BRCA)1 gene. Methods: This bioinformatic study was conducted at LabPLUS, Auckland, New Zealand, from February to June 2017. DNA was extracted from peripheral blood samples of 30 patients and gene library construction was carried out using a commercially available targeted panel for the BRCA1 and BRCA2 genes. The genes were subsequently sequenced and the sequence data analysed. The guidelines published by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/ AMP) provides a comprehensive framework for the interpretation of variants in genes that are associated with Mendelian disorders. The use of these guidelines were compared to the variant classifications that were achieved by reference to those reported in the BRCA Exchange database. Results: The results showed concordance between the two classification protocols for a panel of 30 BRCA1 gene variants, although the transparency in following the ACMG/AMP guidelines provides a diagnostic laboratory with a generalisable approach that allows laboratorydirected revisions to be undertaken in light of new information. Conclusion: The ACMG/AMP-based guidelines were applied to a cohort of patients with BRCA1 gene variants. The use of these guidelines provides a system which creates consistency in variant interpretation and supports subsequent clinical management.Keywords: BRCA1 Gene; Bioinformatics; DNA Sequencing; Nonsense Codon; Splice Donor Site; New Zealand.

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