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Oral surgery, oral medicine, oral pathology and oral radiology · 2020

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

Клинический случайПоддержка исследования: вне правительства СШАСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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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

Аннотация

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.

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