Malignant salivary gland tumours in families with breast cancer susceptibility
| Autor: | Maria Luisa Carcangiu, Lisa Licitra, Paolo Bossi, Siranoush Manoukian, Carla B. Ripamonti, Mara Colombo, Andrea Vingiani, Paolo Radice, Laura D. Locati |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Oncology Heredity Databases Factual medicine.disease_cause Loss of heterozygosity 0302 clinical medicine skin and connective tissue diseases Mutation Tumor Salivary gland BRCA1 Protein General Medicine Middle Aged Salivary Gland Neoplasms BRCA2 Protein Pedigree medicine.anatomical_structure Italy 030220 oncology & carcinogenesis Female Adult medicine.medical_specialty Breast Neoplasms Pathology and Forensic Medicine BRCA1 BRCA2 Salivary gland cancer Biomarkers Tumor Genetic Predisposition to Disease Humans Loss of Heterozygosity Databases 03 medical and health sciences Breast cancer Internal medicine medicine Allele Molecular Biology Factual business.industry Cell Biology medicine.disease 030104 developmental biology business Biomarkers |
| Zdroj: | Virchows Archiv. 479:221-226 |
| ISSN: | 1432-2307 0945-6317 |
| DOI: | 10.1007/s00428-021-03105-6 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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