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Malignant Brenner tumor associated with a germline BRCA2 mutation.

Michael D Toboni1, Haller J Smith2, Sarah E Dilley2

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Gynecologic Oncology Reports
|June 16, 2017
PubMed
Summary

The first reported woman with Malignant Brenner tumor and a BRCA2 mutation highlights the need for genetic counseling in all epithelial ovarian cancer cases, irrespective of rarity. Early genetic referral is crucial for timely diagnosis and management.

Keywords:
BRCA2 mutationGenetic testingMalignant Brenner tumor

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Area of Science:

  • Gynecologic Oncology
  • Cancer Genetics
  • Tumor Histopathology

Background:

  • Epithelial ovarian cancers (EOCs) encompass a heterogeneous group of malignancies.
  • Genetic mutations, such as those in BRCA2, significantly influence cancer risk and treatment strategies.
  • Malignant Brenner tumor is a rare subtype of EOC.

Observation:

  • This report details the first documented case of a patient presenting with both Malignant Brenner tumor and a germline BRCA2 mutation.
  • The patient's clinical presentation and diagnostic journey are described.

Findings:

  • The co-occurrence of Malignant Brenner tumor and a BRCA2 mutation is exceptionally rare.
  • This case underscores that not all women diagnosed with EOCs are referred for genetic counseling, potentially delaying diagnosis of hereditary predispositions.

Implications:

  • Genetic counseling and testing should be considered for all women with epithelial ovarian cancers, regardless of tumor histology or perceived rarity.
  • Identifying BRCA2 mutations in rare ovarian tumors can inform personalized treatment and hereditary cancer risk assessment for families.
  • Expanding genetic referral criteria may improve the detection rate of hereditary gynecologic cancers.