Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified in both coding and non-coding regions of the main Breast Cancer (BC) predisposition genes. The aim of this study is to identify a mutational profile of coding and intron-exon junction regions of 12 moderate penetrance genes (, , , , , , , , , , , ) in a cohort of 450 Italian patients with Hereditary Breast/Ovarian Cancer Syndrome, for germline mutation in genes. The analysis was extended to 5'UTR and 3'UTR of all the genes listed above and to the BRCA1 and BRCA2 known regulatory regions in a subset of 120 patients.

Nutrition, epigenetic markers and growth in preterm infants.

Background And Aim: Maternal diet and early nutrition of newborns may affect the phenotype later in adulthood. Susceptibility of epigenetic mechanisms to the nutritional environment is a critical element in neonatal development. Epigenetic mechanisms could be considered as a bridge between environmental stimuli and long lasting phenotype.

ExtraUterine Growth Restriction (EUGR) in Preterm Infants: Growth Patterns, Nutrition, and Epigenetic Markers. A Pilot Study.

IntraUterine (IUGR) and ExtraUterine Growth Restriction (EUGR) may induce reprogramming mechanisms, finalized to survive before and after birth. Nutritional factors and other environmental signals could regulate gene expression through epigenetic modification, but the molecular mechanisms involved are not yet well understood. Epigenetic mechanisms could be considered as a bridge between environmental stimuli and long lasting phenotype, acquired during the intrauterine life and the first weeks of life.