title: Histological features of extratumoral breast lesions as a predictive factor of familial breast cancer.
abstract: The aim of this study was to verify whether histopathological features of extratumoral and of primary tumor breast tissue could play a role in identifying patients with familial characteristics. We examined the clinicopathological features of 504 patients with sporadic or familial breast cancer stratified for risk of BRCA mutation. Patients with a higher risk of being carrier of BRCA gene mutations were significantly associated with tumor poor differentiation (p=0.003), positive lymph node invasion (p=0.02) and presence of vascular peritumoral invasion (p=0.008). Among the extra-tumoral lesions, only the epithelial proliferative lesions were related to higher mutation risk both in the overall series and familial patients (p<0.0001 and p=0.003, respectively). Interestingly, a significant difference in terms of high mutation risk was observed in usual ductal hyperplasia lesions (UDH), (p=0.002). We suggest that vascular peritumoral invasion and UDH lesions could predict a higher mutation risk of BRCA1 and BRCA2 genes and help in individuating patient candidates to further molecular analysis.
authors.affiliation: Clinical Experimental Oncology Laboratory, National Cancer Institute, 70126 Bari, Italy. a.mangia@oncologico.bari.it
authors.forename: Anita
authors.initials: A
authors.lastname: Mangia
authors.forename: Stefania
authors.initials: S
authors.lastname: Tommasi
authors.forename: Michele
authors.initials: M
authors.lastname: Bruno
authors.forename: Andrea
authors.initials: A
authors.lastname: Malfettone
authors.forename: Cosimo
authors.initials: C
authors.lastname: D'Amico
authors.forename: Francesco Alfredo
authors.initials: FA
authors.lastname: Zito
authors.forename: Angelo
authors.initials: A
authors.lastname: Paradiso
authors.forename: Giovanni
authors.initials: G
authors.lastname: Simone
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics / Q000473:pathology*; D018270:Carcinoma, Ductal, Breast / Q000235:genetics / Q000473:pathology*; D002285:Carcinoma, Intraductal, Noninfiltrating / Q000235:genetics / Q000473:pathology*; D018275:Carcinoma, Lobular / Q000235:genetics / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D011379:Prognosis; D012189:Retrospective Studies
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein