Journal
VIRCHOWS ARCHIV
Volume 479, Issue 1, Pages 221-226Publisher
SPRINGER
DOI: 10.1007/s00428-021-03105-6
Keywords
Salivary gland cancer; BRCA1; BRCA2; Loss of heterozygosity
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Funding
- Italian Association for Cancer Research (AIRC) [22093]
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This study found that some patients with SGCs in high-risk breast cancer families may have genetic factors associated with breast cancer susceptibility.
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.
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