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Rare Germline Variants in DNA Repair Genes Detected in BRCA -Negative Finnish Patients with Early-Onset Breast Cancer.

Viivi KurkilahtiVenkat Subramaniam RathinakannanErja NynäsNeha GoelKristiina AittomäkiHeli NevanlinnaVidal FeyMinna Kankuri-TammilehtoJohanna Schleutker
Published in: Cancers (2024)
Taken together, whole-exome sequencing yielded 72 deleterious variants, including 8 novel variants that may play a pivotal role in the development of early-onset breast cancer. Although more studies are warranted, we demonstrate that young breast cancer patients tend to carry multiple deleterious variants in one or more DNA repair genes.
Keyphrases
  • dna repair
  • early onset
  • dna damage
  • copy number
  • late onset
  • dna damage response
  • genome wide
  • dna methylation
  • middle aged
  • transcription factor
  • case control