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Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.

Ido LaishEitan FriedmanGili Levi-ReznickInbal KedarLior KatzZohar LeviNaama HalpernShani ParnasaAasem Abu-ShatyaElizabeth HalfYael Goldberg
Published in: Breast cancer research and treatment (2021)
This case series, supported by the literature, suggests that the phenotype of double MSH2/6 and BRCA1/2 carriers is not associated with early disease onset or a more severe phenotype. The findings have implications for improved genetic testing guidelines and treatment strategies.
Keyphrases
  • copy number
  • breast cancer risk
  • systematic review
  • genome wide
  • early onset
  • clinical practice
  • transcription factor
  • genome wide analysis