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 GoldbergPublished 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.