Daniela Endt

TL;DR: Biallelic germline mutations in a RAD51 paralog are associated with an FA-like syndrome because of loss of RAD51 focus formation in response to DNA damage and in increased cellular sensitivity to the DNA interstrand cross-linking agent mitomycin C and the topoisomerase-1 inhibitor camptothecin.

TL;DR: It is proposed that the numerous FA variants can be viewed as differential modulations and compression in time of intrinsic biological ageing and arrive at a unifying hypothesis to explain the remarkably wide range of FA phenotypes.

TL;DR: The results provide new evidences, suggesting that the genetic testing of RAD51C should be considered for inclusion into the clinical setting, at least for breast and ovarian cancer families, and encourage re-evaluating its role incorporating functional assays.

TL;DR: It is proposed that analogous to germline genetic mutations constitutive epimutations may serve as the first hit of tumor development and future strategies for effective testing of susceptibility to BC and OC should include an epimutation screen.

TL;DR: The p.Gly264Ser alteration in RAD51C (encoded by a c.790G>A mutation) was found to be overrepresented in families with breast cancer and ovarian cancer compared to controls, and there was also a statistically significant overrepresentation of this variant in individuals with ovarian cancer from Australia.