Ricerc@Sapienza

Breast cancer (BC) is the most common malignancy in women worldwide.
Breast cancer related mortality has dropped significantly since the widespread
adoption of mammographic screening. Approximately, 5% of the patients with BC
carry germline mutations that are responsible for their condition. Women carrying a
BRCA 1 or 2 mutation have a 57% and 49% lifetime risk of developing breast cancer,
respectively. For BRCA1/2 patients reluctant to a prophylactic surgery, the only
risk reducing strategy remains an increased imaging and clinical surveillance.

Objective- Loss-of-function (LOF) variants in the ANGPTL3 (angiopoietin-like protein 3) have been associated with low levels of plasma lipoproteins and decreased coronary artery disease risk. We aimed to determine detailed metabolic effects of genetically induced ANGPTL3 deficiency in fasting and postprandial state. Approach and Results- We studied individuals carrying S17X LOF mutation in ANGPTL3 (6 homozygous and 32 heterozygous carriers) and 38 noncarriers. Nuclear magnetic resonance metabolomics was used to quantify 225 circulating metabolic measures.

Molecular profiling of DNA and RNA has provided valuable new insights into the genetic basis of non-malignant and malignant disorders, as well as an increased understanding of basic mechanisms that regulate human disease.

Background: Low-grade incomplete post-dexamethasone cortisol suppression in patients with adrenal incidentalomas – recently defined as possible autonomous cortisol secretion (pACS) – has been associated with increased cardiovascular events and mortality. However, prospective studies documenting cardiac abnormalities in these patients are lacking. Subjects and methods: Between July 2016 and September 2017, 71 consecutive patients with adrenal lesions were prospectively screened for hypercortisolism by dexamethasone suppression test (NCT 02611258).