Breath analysis for non-invasive detection of breast cancer: A prospective observational cohort study.

Abstract

Purpose and design: BreathBC is a multicenter prospective observational cohort study aimed at comparing metabolic profiles from exhaled breath of patients with breast cancer (BC) and malignancy-free controls. The study accounts for the novelty and complexity of breath analysis, with a particular emphasis on the standardization of each step in the process.

Participants: Women with primary BC without distant metastasis, women carriers of germline BRCA1/2 pathogenic variants and controls were consecutively recruited in two clinical independent cohorts and two technical validation cohorts. Breath samples were collected and linked to clinical breast status, personal, medical and lifestyle data that were retrieved using a questionnaire focused on factors potentially affecting breath analysis.

Results: Among 1010 participants, a group of 846 subjects, compliant with criteria of recruitment and sampling of the study, were preliminarily characterized. The mean age was 61 years for patients with BC and 58 years for controls, with 71% of women in post-menopause. The control group included 48% of participants with benign disease. Hypertension was the main age-related morbidity observed in 28% of participants and 10% were smokers. Among patients with BC, 15% had in situ disease and 85% an invasive cancer whose sub-typing presented a high prevalence of luminal subtypes, in agreement with the consecutive recruitment.Future activities will be focused on data analysis of breathomics data and on technical enhancement of prototypes used for sampling and instrumental analysis.