Are pathogenic BRCA1 mutations associated with parotid mucoepidermoid carcinoma? A case report
| Autor: | Paulo Goberlânio de Barros Silva, Isabelle Joyce de Lima Silva-Fernandes, Rosane Oliveira de Sant'ana, Clarissa Gondim Picanço-Albuquerque, Maria Júlia Barbosa Bezerra, Marcos Venício Alves Lima, Maria Claudia dos Santos Luciano |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Oncology
medicine.medical_specialty Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Breast cancer Mucoepidermoid carcinoma Internal medicine Carcinoma medicine Radiology Nuclear Medicine and imaging Dentistry (miscellaneous) Family history skin and connective tissue diseases Genetic testing medicine.diagnostic_test business.industry Stomach Thyroid 030206 dentistry medicine.disease medicine.anatomical_structure Salivary gland cancer 030220 oncology & carcinogenesis Surgery Oral Surgery business |
| Zdroj: | Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 132:e78-e81 |
| ISSN: | 2212-4403 |
| Popis: | Objectives To describe a patient with BRCA1 mutation, mucoepidermoid parotid, multiple breasts, and thyroid cancers. Case Report 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. Conclusions We suggest that BRCA1 mutations are associated with non-breast and non-ovarian cancers such as salivary gland cancer. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect