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

Oral Surg Oral Med Oral Pathol Oral Radiol. 2021 Aug;132(2):e78-e81. doi: 10.1016/j.oooo.2020.08.017. Epub 2020 Aug 21.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • BRCA1 Protein
  • Breast Neoplasms* / genetics
  • Carcinoma, Mucoepidermoid* / genetics
  • Carcinoma, Mucoepidermoid* / surgery
  • Female
  • Humans
  • Middle Aged
  • Mutation
  • Neoplasm Recurrence, Local
  • Parotid Gland
  • Parotid Neoplasms* / genetics

Substances

  • BRCA1 Protein
  • BRCA1 protein, human