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Association Between <emph type="ital">BRCA1</emph> and <emph type="ital">BRCA2</emph> Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer

Open access
Bolton, Kelly L.·2012·JAMA

Abstract

CONTEXT: Approximately 10% of women with invasive epithelial ovarian cancer (EOC) carry deleterious germline mutations in BRCA1 or BRCA2. A recent article suggested that BRCA2-related EOC was associated with an improved prognosis, but the effect of BRCA1 remains unclear. OBJECTIVE: To characterize the survival of BRCA carriers with EOC compared with noncarriers and to determine whether BRCA1 and BRCA2 carriers show similar survival patterns. DESIGN, SETTING, AND PARTICIPANTS: A pooled analysis of 26 observational studies on the survival of women with ovarian cancer, which included data from 1213 EOC cases with pathogenic germline mutations in BRCA1 (n = 909) or BRCA2 (n = 304) and from 2666 noncarriers recruited and followed up at variable times between 1987 and 2010 (the median year of diagnosis was 1998). MAIN OUTCOME MEASURE: Five-year overall mortality. RESULTS: The 5-year overall survival was 36% (95% CI, 34%-38%) for noncarriers, 44% (95% CI, 40%-48%) for BRCA1 carriers, and 52% (95% CI, 46%-58%) for BRCA2 carriers. After adjusting for study and year of diagnosis, BRCA1 and BRCA2 mutation carriers showed a more favorable survival than noncarriers (for BRCA1: hazard ratio [HR], 0.78; 95% CI, 0.68-0.89; P < .001; and for BRCA2: HR, 0.61; 95% CI, 0.50-0.76; P < .001). These survival differences remained after additional adjustment for stage, grade, histology, and age at diagnosis (for BRCA1: HR, 0.73; 95% CI, 0.64-0.84; P < .001; and for BRCA2: HR, 0.49; 95% CI, 0.39-0.61; P < .001). The BRCA1 HR estimate was significantly different from the HR estimated in the adjusted model (P for heterogeneity = .003). CONCLUSION: Among patients with invasive EOC, having a germline mutation in BRCA1 or BRCA2 was associated with improved 5-year overall survival. BRCA2 carriers had the best prognosis.

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Metadata

Authors
Bolton, K. L.
Venue
JAMA
Published
2012-01-25
Volume
307
Issue
4
Pages
382
ISSN
  • 0002-9955 (ISSN-L)
  • 0098-7484
OpenAlex
W2102004732
Cited by
674
References
45
FWCI
26.93
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Association Between <emph type="ital">BRCA1</emph> and <emph type="ital">BRCA2</emph> Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer. https://app.cochat.ai/papers/10.1001/jama.2012.20
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Bolton, K. L. (2012). Association Between <emph type="ital">BRCA1</emph> and <emph type="ital">BRCA2</emph> Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer. JAMA. https://doi.org/10.1001/jama.2012.20

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