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Endometrial Cancer in a Family With RAD51D Gene Mutation.

Brittany Gilmore1, Linda Logan, Wendy McKinnon

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Germline mutations in RAD51D are linked to endometrial cancer. This study details a family with a RAD51D mutation and two sisters diagnosed with endometrioid-type endometrial carcinoma, highlighting a new association.

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Area of Science:

  • Genetics and Oncology
  • Molecular Biology

Background:

  • The RAD51 complex is crucial for homologous recombination repair.
  • Germline mutations in RAD51 genes are associated with various cancers, including breast, ovarian, and serous endometrial carcinoma.

Purpose of the Study:

  • To report a family with a RAD51D germline mutation.
  • To investigate the association between RAD51D mutations and endometrioid-type endometrial carcinoma.

Main Methods:

  • Genetic analysis of a family with French Canadian ancestry.
  • Clinical case review of two sisters with endometrial carcinoma.

Main Results:

  • Identified a germline mutation in the RAD51D gene within the family.
  • Two sisters presented with endometrioid-type endometrial carcinoma, suggesting a link to RAD51D mutations.

Conclusions:

  • This case expands the spectrum of RAD51-associated malignancies.
  • RAD51D mutations may contribute to the development of endometrioid-type endometrial carcinoma.