Lifestyle Characteristics in Women Carriers of BRCA Mutations: Results From an Italian Trial Cohort

Eleonora Bruno, Andreina Oliverio, Angelo Paradiso, Antonella Daniele, Stefania Tommasi, Daniela A Terribile, Alessio Filippone, Maria Digennaro, Brunella Pilato, Katia Danza, Donatella Guarino, Cristina Rossi, Maria Maddalena Rossi, Elisabetta Venturelli, Marta Giussani, Bernard Peissel, Patrizia Pasanisi

Research output: Contribution to journalArticlepeer-review


BACKGROUND: Women with deleterious mutations in BRCA1/2 have a high lifetime penetrance of developing breast cancer and/or ovarian cancer. Genetic and/or environmental factors may influence BRCA penetrance, and identifying modifiable exposures might be valuable for prevention.

PATIENTS AND METHODS: We implemented a multicenter prospective 2-arm (1:1) randomized controlled trial to investigate whether a Mediterranean dietary intervention with moderate protein restriction would reduce potential modulators of BRCA penetrance such as insulin-like growth factor 1 (IGF-1), body weight, and metabolic risk factors. We studied the baseline characteristics of women with BRCA-positive disease who joined the trial cohort, focusing on the relationships between selected lifestyle exposures, metabolic/anthropometric parameters, and BRCA-related cancer.

RESULTS: A total of 502 women (304 with a previous diagnosis of breast cancer and/or ovarian cancer and 198 unaffected) with deleterious BRCA mutations, with or without a previous cancer, aged 18 to 70 years and without metastases were included. Late age at menarche and pregnancy were negatively associated with BRCA-related cancer, especially in women with BRCA1-positive disease. Higher fat mass and the presence of 4 or 5 metabolic risk factors were significantly associated with BRCA-related cancer (hazard ratio, 1.87, 95% confidence interval, 1.21-2.88; and hazard ratio, 1.87, 95% confidence interval, 1.11-3.19, respectively), with greater effect in BRCA2-positive women.

CONCLUSIONS: Our findings confirm previous observations about reproductive factors in women with BRCA disease and suggest a potential impact of metabolic factors in BRCA-related cancer. The prospective follow-up of the trial cohort will enable us to study the environmental modulators of BRCA penetrance and their impact in relation to the history of BRCA-related cancer. [ NCT03066856].

Original languageEnglish
Pages (from-to)e168-e176
JournalClinical Breast Cancer
Issue number3
Publication statusPublished - Jun 2021


  • Adult
  • Aged
  • BRCA1 Protein
  • BRCA2 Protein
  • Body Mass Index
  • Breast Neoplasms/genetics
  • Cohort Studies
  • Female
  • Humans
  • Italy
  • Life Style
  • Middle Aged
  • Nutritional Status
  • Physical Fitness
  • Prospective Studies


Dive into the research topics of 'Lifestyle Characteristics in Women Carriers of BRCA Mutations: Results From an Italian Trial Cohort'. Together they form a unique fingerprint.

Cite this