Brca detection rate in an italian cohort of luminal early-onset and triple-negative breast cancer patients without family history: When biology overcomes genealogy

Angela Toss, Eleonora Molinaro, Marta Venturelli, Federica Domati, Luigi Marcheselli, Simonetta Piana, Elena Barbieri, Giovanni Grandi, Claudia Piombino, Isabella Marchi, Elena Tenedini, Enrico Tagliafico, Giovanni Tazzioli, Laura Cortesi

Research output: Contribution to journalArticlepeer-review

Abstract

NCCN Guidelines recommend BRCA genetic testing in individuals with a probability >5% of being a carrier. Nonetheless, the cost-effectiveness of testing individuals with no tumor family history is still debated, especially when BRCA testing is offered by the national health service. Our analysis evaluated the rate of BRCA pathogenic or likely-pathogenic variants in 159 triplenegative breast cancer (TNBC) patients diagnosed ≤60 years, and 109 luminal-like breast cancer (BC) patients diagnosed ≤35 without breast and/or ovarian family histories. In TNBC patients, BRCA mutation prevalence was 22.6% (21.4% BRCA1). Mutation prevalence was 64.2% ≤30 years, 31.8% in patients aged 31–40, 16.1% for those aged 41–50 and 7.9% in 51–60s. A total of 40% of patients with estrogen receptors (ER) 1–9% were BRCA1 carriers. BRCA detection rate in early-onset BCs was 6.4% (4.6% BRCA2). Mutation prevalence was 0% between 0–25 years, 9% between 26–30 years and 6% between 31–35 years. In conclusion, BRCA testing is recommended in TNBC patients diagnosed ≤60 years, regardless of family cancer history or histotype, and by using immunohistochemical staining <10% for both ER and/PR. In luminal-like early-onset BC, a lower BRCA detection rate was observed, suggesting a role for other predisposing genes along with BRCA genetic testing.

Original languageEnglish
Article number1252
JournalCancers
Volume12
Issue number5
DOIs
Publication statusPublished - May 2020

Keywords

  • BRCA
  • Breast cancer
  • Early-onset
  • Family history
  • Genetic testing
  • Triple-negative

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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