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Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series.

Jasmine SukumarMahmoud KassemDoreen AgneseRobert PilarskiBhuvaneswari RamaswamyKevin SweetSagar D Sardesai
Published in: Breast cancer research and treatment (2021)
The cancer risk and phenotypic manifestations associated with transheterozygous or multiple concurrent deleterious germline variants in hereditary breast cancer requires further investigation. A personalized approach to counseling, screening, and risk reduction should be undertaken for these individuals.
Keyphrases
  • breast cancer risk
  • copy number
  • dna repair
  • locally advanced
  • dna methylation
  • rectal cancer
  • oxidative stress
  • young adults
  • genome wide
  • men who have sex with men