A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

Improvement of the spectroscopic parameters of the air- and self-broadened N2O and CO lines for the HITRAN2020 database applications

This paper outlines the major updates of the line-shape parameters that were performed for the nitrous oxide (N2O) and carbon monoxide (CO) molecules listed in the HITRAN2020 database. We reviewed the collected measurements for the air- and self-broadened N2O and CO spectra to determine proper values for the spectroscopic parameters. Careful comparisons of broadening parameters using the Voigt and speed-dependent Voigt line-shape profiles were performed among various published results for both N2O and CO. Selected data allowed for developing semi-empirical models, which were used to extrapolate/interpolate existing data to update broadening parameters of all the lines of these molecules in the HITRAN database. In addition to the line broadening parameters (and their temperature dependences), the pressure shift values were revised for N2O and CO broadened by air and self for all the bands. The air and self speed-dependence of the broadening parameter for these two molecules were added for every transition as well. Furthermore, we determined the first-order line-mixing parameters using the Exponential Power Gap (EPG) scaling law. These new parameters are now available at HITRANonline

The HITRAN2020 molecular spectroscopic database

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