The PI3K-Akt cascade is a key signaling pathway involved in cell proliferation, survival, and growth. Activating PIK3CA mutations have been reported in breast carcinoma (BC). The aim of this study was to characterize the PIK3CA mutations at exons 9 and 20 in a series of 176 sporadic and 22 hereditary BCs and to correlate the results with clinicopathologic parameters and survival. In sporadic BC, 68 missense mutations were detected. PIK3CA mutations were significantly associated with ER+ in HER2-negative cases. A higher frequency of PIK3CA mutations was present in lobular carcinoma compared with ductal carcinoma (50% vs. 35%). There was no association between the survival and PIK3CA mutational status. In hereditary BC, PIK3CA mutations were found only in the BRCA2 group. The PIK3CA mutation seems to characterize the luminal-type BC, in both sporadic and BRCA2 mutated forms, and is absent in the basal-type BC, in both the sporadic and BRCA1 mutated forms.

PIK3CA in Breast Carcinoma A Mutational Analysis of Sporadic and Hereditary Cases / Angela, Michelucci; DI CRISTOFANO, Claudio; Azzurra, Lami; Paola, Collecchi; Adelaide, Caligo; Nicola, Decarli; Leopizzi, Martina; Paolo, Aretini; Gloria, Bertacca; PROSPERI PORTA, Romana; Sergio, Ricci; DELLA ROCCA, Carlo; Giorgio, Stanta; Generoso, Bevilacqua; Andrea, Cavazzana. - In: DIAGNOSTIC MOLECULAR PATHOLOGY. - ISSN 1052-9551. - 18:4(2009), pp. 200-205. [10.1097/pdm.0b013e31818e5fa4]

PIK3CA in Breast Carcinoma A Mutational Analysis of Sporadic and Hereditary Cases

DI CRISTOFANO, CLAUDIO;LEOPIZZI, MARTINA;PROSPERI PORTA, Romana;DELLA ROCCA, Carlo;
2009

Abstract

The PI3K-Akt cascade is a key signaling pathway involved in cell proliferation, survival, and growth. Activating PIK3CA mutations have been reported in breast carcinoma (BC). The aim of this study was to characterize the PIK3CA mutations at exons 9 and 20 in a series of 176 sporadic and 22 hereditary BCs and to correlate the results with clinicopathologic parameters and survival. In sporadic BC, 68 missense mutations were detected. PIK3CA mutations were significantly associated with ER+ in HER2-negative cases. A higher frequency of PIK3CA mutations was present in lobular carcinoma compared with ductal carcinoma (50% vs. 35%). There was no association between the survival and PIK3CA mutational status. In hereditary BC, PIK3CA mutations were found only in the BRCA2 group. The PIK3CA mutation seems to characterize the luminal-type BC, in both sporadic and BRCA2 mutated forms, and is absent in the basal-type BC, in both the sporadic and BRCA1 mutated forms.
2009
breast cancer; familial carcinoma; hereditary breast cancer; molecular biology; overall survival; pik3ca mutations; sporadic breast cancer
01 Pubblicazione su rivista::01a Articolo in rivista
PIK3CA in Breast Carcinoma A Mutational Analysis of Sporadic and Hereditary Cases / Angela, Michelucci; DI CRISTOFANO, Claudio; Azzurra, Lami; Paola, Collecchi; Adelaide, Caligo; Nicola, Decarli; Leopizzi, Martina; Paolo, Aretini; Gloria, Bertacca; PROSPERI PORTA, Romana; Sergio, Ricci; DELLA ROCCA, Carlo; Giorgio, Stanta; Generoso, Bevilacqua; Andrea, Cavazzana. - In: DIAGNOSTIC MOLECULAR PATHOLOGY. - ISSN 1052-9551. - 18:4(2009), pp. 200-205. [10.1097/pdm.0b013e31818e5fa4]
File allegati a questo prodotto
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/364430
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 17
  • Scopus 32
  • ???jsp.display-item.citation.isi??? 31
social impact