A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA

Jennifer Gass, Jessica Jackson, Sarah Macklin, Patrick Blackburn, Stephanie Hines, Paldeep S. Atwal

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Approximately 39.6% of people will be diagnosed with cancer during their lifetime. Several factors including, lifestyle, environment and genetics may play a role in its development. Understanding these causes will greatly improve treatment methods, prevention, and survival rates of these patients. Our patient, who has a positive family history of cancer, presented with contralateral breast cancer and multiple skin malignancies. Genetic testing revealed a frameshift variant in NBN. This gene encodes the protein, nibrin, which is involved in maintaining genomic stability. Several reports have identified heterozygous NBN frameshift (c.2028delT, c.2097dupT, c.657-661delACAAA) and splice site variants (c.1397+delG) in patients with breast cancer. However, our report is the first to describe a heterozygous c.698_701delAACA NBN variant in a patient with breast cancer. Since NBN is involved in DNA integrity, loss of functional protein due to pathogenic variants significantly increases the risk of various cancers. Given the family and personal history of our patient, in connection with previous reports of NBN pathogenic variants predisposition to cancer, this variant is predicted to be pathogenic and clinically significant.

Original languageEnglish (US)
Pages (from-to)1-3
Number of pages3
JournalFamilial Cancer
DOIs
StateAccepted/In press - Apr 3 2017

Keywords

  • Breast cancer
  • Melanoma
  • NBN pathogenic variants
  • Nibrin
  • Squamous cell carcinoma

ASJC Scopus subject areas

  • Oncology
  • Genetics
  • Genetics(clinical)
  • Cancer Research

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