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Background <p><i>BRCA1</i> and <i>BRCA2</i> carriers have increased risk of pancreatic cancer (PC). We have studied prospective incidence rate and cumulative risk of PC in a large cohort of confirmed carriers.</p> Methods <p><i>BRCA1/2</i> carriers without PC prior to genetic testing were identified from the clinical registry at Section for Hereditary Cancer, Oslo University Hospital. Cancer diagnoses were collected from Cancer Registry of Norway (CRN). Standardized incidence ratios (SIRs) were derived from national reference rates. The Kaplan-Meier method was used to calculate cumulative risk.</p> Results <p>Among 2681 <i>BRCA1</i> carriers, we observed 13 cases <i>versus</i> 4.73 expected (SIR 2.75, 95% CI 1.46–4,70). In 1476 <i>BRCA2</i> carriers, we observed 9 cases <i>versus</i> 1.89 expected (SIR 4.76, 95% CI 2.18–9.04). Suggestively, there were higher risks among female <i>BRCA2</i> carriers (SIR 6.52, 95% CI 2.82–12.85, 8 cases) and male <i>BRCA1</i> carriers (SIR 5.51, 95% CI 2.52–10.47, 9 cases), who had cumulative risks at 70 years of 1.2% and 2.5% respectively.</p> Conclusions <p><i>BRCA1/2</i> carriers had three times more cases of PC than expected, suggestively higher among female <i>BRCA2</i> and male <i>BRCA1</i> carriers. Cumulative risk of PC at 70 years in the latter two groups was less than 3% (0.5% and 0.7% in all Norwegian males and females observed until age 70 based on population data).</p>

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A prospective observational study of pancreatic cancer risk in men and women with pathogenic variants in BRCA1 or BRCA2

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  • 发表日期：

    2025年12月12日

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  • Eli Marie Grindedal,
  • Manuela Zucknick,
  • Sigrid Tronsli Hovland,
  • Tom K. Grimsrud,
  • Lovise Mæhle

摘要

Background

BRCA1 and BRCA2 carriers have increased risk of pancreatic cancer (PC). We have studied prospective incidence rate and cumulative risk of PC in a large cohort of confirmed carriers.

Methods

BRCA1/2 carriers without PC prior to genetic testing were identified from the clinical registry at Section for Hereditary Cancer, Oslo University Hospital. Cancer diagnoses were collected from Cancer Registry of Norway (CRN). Standardized incidence ratios (SIRs) were derived from national reference rates. The Kaplan-Meier method was used to calculate cumulative risk.

Results

Among 2681 BRCA1 carriers, we observed 13 cases versus 4.73 expected (SIR 2.75, 95% CI 1.46–4,70). In 1476 BRCA2 carriers, we observed 9 cases versus 1.89 expected (SIR 4.76, 95% CI 2.18–9.04). Suggestively, there were higher risks among female BRCA2 carriers (SIR 6.52, 95% CI 2.82–12.85, 8 cases) and male BRCA1 carriers (SIR 5.51, 95% CI 2.52–10.47, 9 cases), who had cumulative risks at 70 years of 1.2% and 2.5% respectively.

Conclusions

BRCA1/2 carriers had three times more cases of PC than expected, suggestively higher among female BRCA2 and male BRCA1 carriers. Cumulative risk of PC at 70 years in the latter two groups was less than 3% (0.5% and 0.7% in all Norwegian males and females observed until age 70 based on population data).