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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Mentions: Paraffin embedded tissue was available from the two patients with the 1100delC variant (B9 and D11) and the patient with the Arg117Gly variant (G11). Analysis of tumour DNA from B9 showed no evidence of allelic imbalance by sequencing. Sequencing of relevant exons from tumour DNA from D11 and G11, however, showed that the mutant allele was lost and the wild type allele retained (Figure 2Figure 2
Affiliation: Royal Marsden NHS Trust, Downs Road, Sutton, Surrey SM2 5PT, UK. firstname.lastname@example.org