BRCA1/BRCA2 variants of uncertain significance in clinical practice: A case report

• DOI: 10.3892/mco.2021.2385
• Publication Date: 2021-08-31T07:29:50Z
• Authors: Joanna Huszno; Wojciech Pigłowski; Magdalena Mazur; Jolanta Pamuła‑Piłat; Artur Zajkowicz; Anna Kierzkowska; Małgorzata Wojcie...
• Keywords: Clinical Significance

The influence of <em>BRCA1/2</em> variants uncertain significance (VUSs) on the cancer risk and their association with response to treatment is uncertain. aim present study was evaluate role <em>BRCA</em> VUS in patients breast cancer. A total two cases were described. complete coding sequence genes analyzed from genomic DNA material by next generation sequencing Ion Torrent platform. presence c.3454G&gt;A (p.Asp1152Asn) <em>BRCA1</em> gene reported a 64‑year‑old woman invasive carcinoma. characteristics tumors following: moderately differentiated‑intermediate grade (NG‑2 G‑2), HER2 (+), estrogen receptor (ER) (+++), progesterone (PR) luminal subtype pT2 N1a Mx. second detected c.2374T&gt;C (p.Tyr792His) variant BRCA2 gene. This 33‑year‑old who diagnosed right (cT2N1M0). carcinoma characterized as follows: NG‑2 G‑2, ER PR Ki‑67 10%, (+++) B subtype. data demonstrated that VUSs should be managed based family history clinicopathological characteristics. clinical may change over time reclassification ‘pathogenic’ or ‘benign’ undertaken. Patients followed up regularly.