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. 2023 Oct;18(5):412-416.
doi: 10.1159/000531612. Epub 2023 Jun 20.

A de Novo BRCA1 Pathogenic Variant in a 29-Year-Old Woman with Triple-Negative Breast Cancer

Paulina Gebhart  1 , Yen Tan  1 , Daniela Muhr  1 , Christina Stein  2 , Christian Singer  1
Affiliations

A de Novo BRCA1 Pathogenic Variant in a 29-Year-Old Woman with Triple-Negative Breast Cancer

Paulina Gebhart et al. Breast Care (Basel). 2023 Oct.

Abstract

Introduction: Germline pathogenic variants in the BRCA1 and BRCA2 genes lead to a highly increased lifetime risk for breast and ovarian cancer. These variants are usually inherited and reports of de novo occurrences are a very rare phenomenon.

Case presentation: We report on a breast cancer patient with a de novo BRCA1 variant c.121C>T (p.His41Tyr). The pathogenic variant was detected in leukocyte DNA of a patient with negative family history who had developed early onset, triple-negative breast cancer. The variant was not found in any of the maternal and paternal tissues tested, but it was detected in multiple samples representing all three germ layers of the affected carrier, which renders somatic mosaicism unlikely.

Conclusion: This case highlights the importance of including early onset of disease and triple negativity of the tumor as criteria for genetic testing, even in patients without family history. Considering the availability of effective breast cancer treatments in patients with pathogenic variants in the BRCA genes, this finding underscores the importance of genetic testing in breast cancer patients.

Keywords: BRCA1; Breast cancer; Genetic testing; Germline pathogenic variant; PARP Inhibitor.

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Conflict of interest statement

The authors declare that they do not have any conflicts of interest in direct or indirect relationship with this research.

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Grants and funding

This work was funded by the Medical University of Vienna.

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