Clinical Report: Genetic Multigene Panel Analysis in Women Diagnosed with Invasive Lobular Carcinoma
Overview
This study evaluates the outcomes of germline pathogenic variants associated with increased breast cancer risk in women diagnosed with invasive lobular carcinoma (ILC) through multigene panel testing. It highlights the prevalence of variants in genes such as CDH1 and BRCA2.
Background
Invasive lobular carcinoma (ILC) is the second most common subtype of breast cancer, presenting unique challenges in detection and treatment. Understanding the genetic factors associated with ILC is crucial for developing personalized approaches to surveillance and therapy.
Data Highlights
This study analyzed 113 genes in a cohort of women diagnosed with primary ILC, focusing on the prevalence of germline pathogenic variants and their prognostic implications.
Key Findings
Germline pathogenic variants in CDH1 and BRCA2 were identified as conferring high risk for ILC.
CHEK2, ATM, and PALB2 were associated with moderate risk for ILC.
BRCA1 pathogenic variants were not significantly linked to ILC susceptibility.
CDH1 variants were more frequent in ILC compared to invasive ductal carcinoma.
Clinical Implications
Clinicians should consider the implications of identified germline variants.
Conclusion
This study evaluates the role of genetic multigene panel testing in understanding the risk factors associated with invasive lobular carcinoma.
by Giovanni Corso, Elena Marino, Francesca Fava, Fabrizio Natali, Paolo Peterlongo, Matteo Dal Molin, Irene Feroce, Cristina Zanzottera, Giulia Massari, Susanna Di Silvestre, Micol Moscatiello, Andrea Franceschini, Vincenzo Bagnardi, Giuseppe Curigliano, Bernardo Bonanni, Paolo Veronesi, Francesco Bertolini
