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BARD1 deletion in a patient with suspected hereditary colorectal cancer.

Nobue TakaisoIssei ImotoAkiyo YoshimuraAkira OuchiKoji KomoriHiroji IwataYasuhiro Shimizu
Published in: Human genome variation (2024)
Deleterious germline variants in the BRCA1-associated ring domain (BARD1) gene moderately elevate breast cancer risk; however, their potential association with other neoplasms remains unclear. Here, we present the case of a 43-year-old female patient diagnosed with sigmoid colon adenocarcinoma whose maternal family members met the Amsterdam Criteria II for Lynch syndrome. Comprehensive multigene panel testing revealed a heterozygous BARD1 exon 3 deletion.
Keyphrases
  • breast cancer risk
  • case report
  • copy number
  • squamous cell carcinoma
  • pulmonary embolism
  • early onset
  • tyrosine kinase
  • dna repair
  • pregnant women
  • risk assessment
  • climate change
  • weight gain