Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia

Hereditary breast and ovarian cancer (HBOC) follows an autosomal dominant inheritance pattern of cancer susceptibility genes. The risk of developing this disease is primarily associated with germline mutations in the BRCA1 and BRCA2 genes. The advent of massive genetic sequencing technologies has expanded the mutational spectrum of this hereditary syndrome, thereby increasing the number of variants of uncertain clinical significance (VUS) detected by genetic testing

Influence of Home Indoor Dampness Exposure on Volatile Organic Compounds in Exhaled Breath of Mothers and Their Infants: The NELA Birth Cohort

©2022. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ This document is the Published, version of a Published Work that appeared in final form in Applied Sciences. To access the final edited and published work see https://doi.org/10.3390/app12146864Currently, the effect of exposure to indoor air contaminants and the presence of dampness at home on respiratory/atopic health is of particular concern to physicians. The measurement of volatile organic compounds (VOCs) in exhaled breath is a useful approach for monitoring environmental exposures. A great advantage of this strategy is that it allows the study of the impact of pollutants on the metabolism through a non-invasive method. In this paper, the levels of nine VOCs (acetone, isoprene, toluene, p/m-xylene, o-xylene, styrene, benzaldehyde, naphthalene, and 2-ethyl-1-hexanol) in the exhaled breath of subjects exposed and not exposed to home dampness were assessed. Exhaled breath samples were collected from 337 mother–child pairs of a birth cohort and analysed by gaschromatography–mass-spectrometry. It was observed that the levels of 2-ethyl-1-hexanol in the exhaled breath of the mothers were significantly influenced by exposure to household humidity. In the case of the infants, differences in some of the VOC levels related to home dampness exposure; however, they did not reach statistical significance. In addition, it was also found that the eosinophil counts of the mothers exposed to home dampness were significantly elevated compared to those of the non-exposed mothers. To our knowledge, these findings show, for the first time, that exposure to home dampness may influence VOC patterns in exhaled breath