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Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer.

Elifnaz CelikKubra Ermis TekkusIzzet Mehmet AkcayGizem Alkurt SalFikret EzberciGizem Dinler DoganayLevent Doganay
Published in: Clinical case reports (2018)
We used a multi-gene panel testing to identify the germline variants in a mother-daughter pair with early-onset breast cancer, and detected one pathogenic protein-truncating variant in BRCA2. Our results highlight the importance of genetic testing in identifying the pathogenic mutation running in cancer families.
Keyphrases
  • early onset
  • late onset
  • breast cancer risk
  • copy number
  • papillary thyroid
  • childhood cancer
  • genome wide
  • dna repair
  • squamous cell
  • high intensity
  • squamous cell carcinoma
  • gene expression
  • dna methylation
  • young adults