Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2. Academic Article uri icon

Overview

abstract

  • PURPOSE: Women with breast cancer diagnosed early in life comprise a substantial portion of those tested for BRCA1/BRCA2 mutations; however, little information is available on the subsequent risks of contralateral breast cancer in mutation carriers. This study assessed the risk of subsequent contralateral breast cancer associated with carrying a BRCA1 or BRCA2 mutation. PATIENTS AND METHODS: In this nested case-control study, patients with contralateral breast cancer diagnosed 1 year or more after a first primary breast cancer (n = 705) and controls with unilateral breast cancer (n = 1,398) were ascertained from an underlying population-based cohort of 52,536 women diagnosed with a first invasive breast cancer before age 55 years. Interviews and medical record reviews were used to collect risk factor and treatment histories. All women were tested for BRCA1/BRCA2 mutations. Relative (rate ratios) and absolute (5- and 10-year cumulative) risks of developing contralateral breast cancer following a first invasive breast cancer were computed. RESULTS: Compared with noncarriers, BRCA1 and BRCA2 mutation carriers had 4.5-fold (95% CI, 2.8- to 7.1-fold) and 3.4-fold (95% CI, 2.0- to 5.8-fold) increased risks of contralateral breast cancer, respectively. The relative risk of contralateral breast cancer for BRCA1 mutation carriers increased as age of first diagnosis decreased. Age-specific cumulative risks are provided for clinical guidance. CONCLUSION: The risks of subsequent contralateral breast cancer are substantial for women who carry a BRCA1/BRCA2 mutation. These findings have important clinical relevance regarding the assessment of BRCA1/BRCA2 status in patients with breast cancer and the counseling and clinical management of patients found to carry a mutation.

authors

  • Malone, Kathleen E
  • Begg, Colin B.
  • Haile, Robert W
  • Borg, Ake
  • Concannon, Patrick
  • Tellhed, Lina
  • Xue, Shanyan
  • Teraoka, Sharon
  • Bernstein, Leslie
  • Capanu, Marinela
  • Reiner, Anne S
  • Riedel, Elyn R
  • Thomas, Duncan C
  • Mellemkjaer, Lene
  • Lynch, Charles F
  • Boice, John D
  • Anton-Culver, Hoda
  • Bernstein, Jonine L

publication date

  • April 5, 2010

Research

keywords

  • BRCA1 Protein
  • BRCA2 Protein
  • Breast Neoplasms
  • Mutation
  • Neoplasm Recurrence, Local

Identity

PubMed Central ID

  • PMC2881721

Scopus Document Identifier

  • 77952518033

Digital Object Identifier (DOI)

  • 10.1200/JCO.2009.24.2495

PubMed ID

  • 20368571

Additional Document Info

volume

  • 28

issue

  • 14