Maxime Vallée

TL;DR: The analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data and provides further evidence for inherited genetic susceptibility to lung cancer and its biological basis.

TL;DR: The components of the model are described and how these can be combined to calculate a posterior probability of pathogenicity for each VUS and the method can be used as a framework for classification of the pathogenicicity of VUS in other cancer genes.

TL;DR: Next-generation sequencing on circulating free DNA samples obtained from a consecutive series of patients for the screening of a range of clinically relevant mutations demonstrates the feasibility and potential utility of mutation screening in cfDNA using IonTorrent NGS for the detection of arange of tumor biomarkers in patients with metastatic lung cancer.

TL;DR: It is concluded that a comparison between the graded distributions of missense substitutions in cases versus controls can complement analyses of truncating variants and help identify susceptibility genes and that this approach will aid interpretation of the data emerging from new sequencing technologies.

TL;DR: It is established that MRE11A, RAD50, and NBN are intermediate-risk breast cancer susceptibility genes, and like ATM and CHEK2, their spectrum of pathogenic variants includes a relatively high proportion of missense substitutions.