Triple negative status and BRCA mutations in contralateral breast cancer: a population-based study

Triple negative status and BRCA mutations in contralateral breast cancer: a population-based study

Authors

  • Benedetta Pellegrino University Hospital of Parma
  • Mariangela Bella University Hospital of Parma
  • Maria Michiara University Hospital of Parma
  • Paola Zanelli University Hospital of Parma
  • Nadia Naldi University Hospital of Parma
  • Rosa Porzio Hospital of Piacenza
  • Beatrice Bortesi University Hospital of Parma
  • Daniela Boggiani University Hospital of Parma
  • Daniele Zanoni University Hospital of Parma
  • Roberta Camisa University Hospital of Parma
  • Tauro Maria Neri University Hospital of Parma
  • Carmine Pinto University Hospital of Parma
  • Antonino Musolino University Hospital of Parma

Keywords:

BRCA, breast cancer, contralateral, genetic testing, triple-negative

Abstract

Background and aim of the work: BRCA1/2 mutation carriers diagnosed with breast cancer have a strong life-time risk of developing contralateral breast cancer (CBC). We performed a population-based study with the aim of estimating the proportion of CBC associated with BRCA1/BRCA2 mutations, and the contribution of germline mutations to both molecular and clinical features of these tumors.

Methods: Fifty-five women with invasive CBC consecutively seen at the at the Genetic Oncology Service of the University Hospital of Parma from 2000 to 2011 were subjected to BRCA1/2 testing. Fifty-five case-matched, unilateral breast cancer (UBC)  patients (pts), which tested negative for BRCA1/2 mutations, were selected as control group.

Results: BRCA mutations were detected in 13 (24%) of 55 CBC pts. Women with BRCA1 mutations, and to a lesser extent BRCA2 mutations, were significantly more likely to present with high histologic grade, negative hormone receptor status and high proliferation rate in both first and second primary breast cancers than BRCA-negative, CBC tumors. A diagnosis of triple-negative breast cancer (TNBC) was significantly more frequent in women with BRCA mutations in comparison with BRCA-negative, UBC controls. There were no survival differences between BRCA-positive and non-BRCA tumors.

Conclusions: Results of the present study indicate that both first primary and second primary breast cancers in BRCA carriers are qualitatively distinct from BRCA negative CBC, and from sporadic UBC controls. These findings highlight relevant clinical considerations about the potential value of BRCA testing in women with CBC as well as therapeutic, preventive, and surveillance implications for patients carrying a mutation.

Author Biographies

Benedetta Pellegrino, University Hospital of Parma

Medical Oncology Unit, MD

Mariangela Bella, University Hospital of Parma

Medical Oncology Unit, Genetic Oncology Service, MD

Maria Michiara, University Hospital of Parma

Medical Oncology Unit, MD

Paola Zanelli, University Hospital of Parma

Genetic Oncology Service, MD

Nadia Naldi, University Hospital of Parma

Genetic Oncology Service, Medical Oncology Unit, PhD

Rosa Porzio, Hospital of Piacenza

Medical Oncology and Hematology Department, MD

Beatrice Bortesi, University Hospital of Parma

Medical Oncology Unit, Genetic Oncology Service, PhD

Daniela Boggiani, University Hospital of Parma

Medical Oncology Unit, MD

Daniele Zanoni, University Hospital of Parma

Medical Oncology Unit, MD

Roberta Camisa, University Hospital of Parma

Medical Oncology Unit, PhD

Tauro Maria Neri, University Hospital of Parma

Genetic Oncology Service, MD

Carmine Pinto, University Hospital of Parma

Medical Oncology Unit, MD

Antonino Musolino, University Hospital of Parma

Medical Oncology Unit, MD, PhD

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Published

06-05-2016

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Section

ORIGINAL ARTICLES

How to Cite

1.
Pellegrino B, Bella M, Michiara M, Zanelli P, Naldi N, Porzio R, et al. Triple negative status and BRCA mutations in contralateral breast cancer: a population-based study. Acta Biomed [Internet]. 2016 May 6 [cited 2024 Jul. 19];87(1):54-63. Available from: https://www.mattioli1885journals.com/index.php/actabiomedica/article/view/4834