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Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.

Gabriel Bandeira do CarmoKatia RochaMonize LazarSuzana EzquinaGuilherme YamamotoMonica VarelaVanessa TakahashiMeire AguenaThomaz GollopMayana ZatzMaria Rita Passos-BuenoAna KrepischiOswaldo Keith Okamoto
Published in: Breast cancer (Tokyo, Japan) (2020)
Our findings contribute to the characterization of the genetic background of breast cancer predisposition in the Brazilian population as a useful resource to discriminate between deleterious variants and VUS, thus enabling improvement in the preventive health care and clinical management of carriers.
Keyphrases
  • social media
  • early onset
  • copy number
  • healthcare
  • late onset
  • dna repair
  • dna damage
  • genome wide
  • dna damage response
  • loop mediated isothermal amplification
  • young adults
  • real time pcr