Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers

Miolo, GianMaria, Canzonieri, Vincenzo, De Giacomi, Clelia, Della Puppa, Lara, Dolcetti, Riccardo, Lombardi, Davide, Perin, Tiziana, Scalone, Simona, Veronesi, Andrea and Viel, Alessandra (2009) Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers. BMC Cancer, 9 . doi:10.1186/1471-2407-9-360


Author Miolo, GianMaria
Canzonieri, Vincenzo
De Giacomi, Clelia
Della Puppa, Lara
Dolcetti, Riccardo
Lombardi, Davide
Perin, Tiziana
Scalone, Simona
Veronesi, Andrea
Viel, Alessandra
Title Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers
Journal name BMC Cancer   Check publisher's open access policy
ISSN 1471-2407
Publication date 2009-10-10
Sub-type Article (original research)
DOI 10.1186/1471-2407-9-360
Open Access Status DOI
Volume 9
Total pages 12
Place of publication London, United Kingdom
Publisher BioMed Central
Language eng
Formatted abstract
Background: BRCA1 gene-related tumours are more frequently estrogen receptor (ER) and progesterone receptor (PR) negative with a lower prevalence of human epidermal growth factor receptor 2 (HER2) overexpression or amplification. We evaluated the effectiveness of a combination of homogeneously selected criteria and immunohistochemical (IHC) characteristics of Familial Breast Cancers (FBCs) in detecting BRCA1 mutation carriers.

Methods: Primary breast tumours from 93 FBC patients defined by specific eligibility criteria, based on personal and familial tumour history, were evaluated by Allred's method. The BRCA1 molecular analysis, including Multiplex Ligation-dependent Probe Amplification (MLPA), was considered as the gold standard assay.

Results: A total of 10 BRCA1 pathogenetic mutations was found. With the exclusion of the tumours characterized by double positive receptorial status and/or strong HER2 positivity (3+), we identified 22 patients, 10 of whom resulted as BRCA1 mutation carriers. The sensitivity, specificity, positive and negative predictive values were 100%, 83.3%, 45.4% and 100% respectively.

Conclusion: Our findings suggest that the IHC analysis by Allred's method improves our ability to select patients for BRCA1 testing.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Diamantina Institute Publications
 
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