TY - JOUR
T1 - Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers
AU - Miolo, GianMaria
AU - Canzonieri, Vincenzo
AU - De Giacomi, Clelia
AU - Puppa, Lara D.
AU - Dolcetti, Riccardo
AU - Lombardi, Davide
AU - Perin, Tiziana
AU - Scalone, Simona
AU - Veronesi, Andrea
AU - Viel, Alessandra
PY - 2009/10/10
Y1 - 2009/10/10
N2 - 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.
AB - 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.
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U2 - 10.1186/1471-2407-9-360
DO - 10.1186/1471-2407-9-360
M3 - Article
C2 - 19818148
AN - SCOPUS:70450252063
VL - 9
SP - 360
JO - BMC Cancer
JF - BMC Cancer
SN - 1471-2407
M1 - 1471
ER -