BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report

Erratum in: /10.3892/ol.2018.9015

  • Authors:
    • Bondavalli Davide
    • Malvestiti Francesca
    • Pensotti Valeria
    • Feroce Irene
    • Bonanni Bernardo
  • View Affiliations

  • Published online on: December 28, 2017     https://doi.org/10.3892/ol.2017.7711
  • Pages: 3329-3332
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Abstract

The present case report discusses a woman affected by chronic lymphatic leukemia and breast cancer with a familial history of breast cancer; suspected to be hereditary breast and ovarian cancer (HBOC) syndrome. The patient underwent BRCA1 and BRCA2 genetic testing. Sequencing of BRCA1 revealed the presence of the variant of unknown significance (VUS) c.3082C>T (p.Arg1028Cys) at homozygous state, whereas no mutations were detected in BRCA2. Multiplex ligation‑dependent probe amplification confirmed the presence of two alleles. Although consanguineity between her parents was reported, which therefore supported the molecular data, her clinical phenotype was not suggestive of typical Fanconi anemia (FA), particularly of a BRCA1‑linked FA. In the two cases reported in the literature, carriers of biallelic BRCA1 mutation present a severe and quite typical phenotype. For this reason, the patient was offered a diepoxybutane test, where neither complex rearrangements nor multiradial formation were detected. We were therefore inclined to consider that BRCA1 VUS as of little clinical significance.
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March-2018
Volume 15 Issue 3

Print ISSN: 1792-1074
Online ISSN:1792-1082

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Spandidos Publications style
Davide B, Francesca M, Valeria P, Irene F and Bernardo B: BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report Erratum in /10.3892/ol.2018.9015. Oncol Lett 15: 3329-3332, 2018
APA
Davide, B., Francesca, M., Valeria, P., Irene, F., & Bernardo, B. (2018). BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report Erratum in /10.3892/ol.2018.9015. Oncology Letters, 15, 3329-3332. https://doi.org/10.3892/ol.2017.7711
MLA
Davide, B., Francesca, M., Valeria, P., Irene, F., Bernardo, B."BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report Erratum in /10.3892/ol.2018.9015". Oncology Letters 15.3 (2018): 3329-3332.
Chicago
Davide, B., Francesca, M., Valeria, P., Irene, F., Bernardo, B."BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report Erratum in /10.3892/ol.2018.9015". Oncology Letters 15, no. 3 (2018): 3329-3332. https://doi.org/10.3892/ol.2017.7711