CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours.
Bottom Line: Five of these individuals were found to harbour germline variants in CHEK2.These two missense variants reside within the Forkhead-associated domain of CHEK2, which is important for the function of the expressed protein.Microdissected tumours with a germline mutation showed loss of the mutant allele suggesting a mechanism for tumorigenesis other than a loss of the wild type allele.
Affiliation: Royal Marsden NHS Trust, Downs Road, Sutton, Surrey SM2 5PT, UK. email@example.comShow MeSH
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Affiliation: Royal Marsden NHS Trust, Downs Road, Sutton, Surrey SM2 5PT, UK. firstname.lastname@example.org