Salivary gland cancers (SGCs) are rare malignancies with highly heterogeneous histological features. Patients affected with SGCs are at increased risk of secondary malignancies, including breast cancer (BC). Previous studies enlightened a possible link between SGCs and hereditary predisposition to BC. Here, we searched for SGC-affected patients in 1796 high-risk BC families recruited at the Genetic Unit of the Istituto Nazionale dei Tumori of Milan, 516 of which carried pathogenic variants in BRCA1 and/or BRCA2, the main genetic risk factors for BC. We detected five families with an individual affected with SGC, including two male patients, one carrying a constitutional mutation in BRCA1 and the other in BRCA2. Loss of heterozygosity of BRCA wild-type alleles was assessed in the patients’ tumour DNA. We conclude that our observations support the hypothesis that genetic factors associated with BC susceptibility might play a role also in at least a subset of SGCs.
Malignant salivary gland tumours in families with breast cancer susceptibility / C.B. Ripamonti, P. Bossi, S. Manoukian, L. Locati, M. Colombo, M.L. Carcangiu, A. Vingiani, L. Licitra, P. Radice. - In: VIRCHOWS ARCHIV. - ISSN 0945-6317. - (2021 Jun 08). [Epub ahead of print]
Titolo: | Malignant salivary gland tumours in families with breast cancer susceptibility | |
Autori: | ||
Parole Chiave: | BRCA1; BRCA2; Loss of heterozygosity; Salivary gland cancer | |
Settore Scientifico Disciplinare: | Settore MED/06 - Oncologia Medica | |
Data di pubblicazione: | 8-giu-2021 | |
Rivista: | ||
Tipologia: | Article (author) | |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1007/s00428-021-03105-6 | |
Appare nelle tipologie: | 01 - Articolo su periodico |
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