Are pathogenic BRCA1 mutations associated with parotid mucoepidermoid carcinoma? A case report

• Published in: Oral surgery, oral medicine, oral pathology and oral radiology Vol. 132; no. 2; pp. e78 - e81
• Main Authors: Silva, Paulo Goberlânio de Barros, de Sant'ana, Rosane Oliveira, Picanço-Albuquerque, Clarissa Gondim, Silva-Fernandes, Isabelle Joyce de Lima, Bezerra, Maria Júlia Barbosa, Luciano, Maria Claudia dos Santos, Lima, Marcos Venício Alves
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.08.2021
• ISSN: 2212-4403; 2212-4411
• DOI: 10.1016/j.oooo.2020.08.017

To describe a patient with BRCA1 mutation, mucoepidermoid parotid, multiple breasts, and thyroid cancers. A women was diagnosed at 33-years-age with a triple-negative breast cancer (right breast), at 43-years-age with a triple-negative breast cancer in left breast and at 53-years-age with a primary papillary-thyroid carcinoma. At 55-years-age, she was diagnosed with a primary mucoepidermoid carcinoma in right parotid, and concomitantly, her right nipple was affected by Paget's disease and a recurrent carcinoma in right breast (HR + /HER2 = 3 +). At 57-years-age, after the recurrence of a triple-negative breast cancer (left breast), a geneticist evaluated the patient's family history, including one stomach, one non-smoking-related lung, and two smoking-related laryngeal cancers. Genetic testing revealed a BRCA1 mutation (Chr17:41:251.867). The patient's daughter (a non-cancer patient) tested negative for the mutation. Both remain under medical supervision. We suggest that BRCA1 mutations are associated with non-breast and non-ovarian cancers such as salivary gland cancer.