The APC I1307K variant and male breast cancer risk: a multicenter case-control study in Italy
Year: 2025
Type: article
Study design: Observational Study
Abstract: Objectives The APC I1307K variant is a known moderate-risk allele for colorectal cancer (CRC), especially among Ashkenazi Jewish (AJ) individuals. However, its role in other cancers, particularly in male breast cancer (MBC), remains unclear. This study aimed to evaluate whether APC I1307K contributes to MBC risk in the Italian (non-AJ) population. Methods A multicenter case-control study was conducted involving 1028 MBC cases and 2,126 geographically matched healthy male controls. Genotyping was performed via Next Generation Sequencing or TaqMan assays. Associations between APC I1307K and MBC risk were analyzed using logistic regression models, including multivariate adjustments for age, enrollment center, and BRCA1/2 status. Results The APC I1307K variant was detected in 4 MBC cases (0.4 %) and 5 controls (0.2 %). No statistically significant association with MBC risk was observed (multivariate odds ratio [OR]=3.7, 95 % CI: 0.8–17.0, p=0.09). Clinical-pathologic comparisons revealed no distinguishing features among variant carriers. None of the carriers harbored BRCA1/2 pathogenic variants (PVs) or had personal histories of CRC or familial adenomatous polyposis. Conclusions These findings suggest that APC I1307K does not confer a significant risk for MBC in the Italian population.
Source: ONCOLOGIE
Authors: Agostino Bucalo, Virginia Valentini, Virginia Porzio, Valentina Arcangeli, Bernardo Bonanni, Daniele Calistri, Ileana Carnevali, Laura Cortesi, Giuseppe Giannini, Viviana Gismondi, Siranoush Manoukian, Livia Manzella, Marco Montagna, Paolo Peterlongo, Paolo Radice, Antonio Russo, Maria Grazia Tibiletti, Daniela Turchetti, Alessandra Viel, Valentina Zampiga, Ines Zanna, Giovanna Masala, Valentina Silvestri, Laura Ottini
Institutions: Sapienza University of Rome, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori, European Institute of Oncology, University of Insubria, Ospedale di Circolo e Fondazione Macchi, Aziende Socio Sanitarie Territoriale dei Sette Laghi, University of Modena and Reggio Emilia, Ospedale Policlinico San Martino, Fondazione IRCCS Istituto Nazionale dei Tumori, University of Catania, Istituto Oncologico Veneto, University of Palermo, University of Bologna, Centro di Riferimento Oncologico
Language: English
Topic: Male Breast Health Studies
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,130
OpenAlex ID: W4417521957