Abstract

BackgroundWide implementation of mammography screening has resulted in increased numbers of women diagnosed with breast carcinoma in situ. We aimed to determine the risk of invasive breast cancer in relatives of patients with breast carcinoma in situ in comparison to the risk in relatives of patients with invasive breast cancer.MethodsWe analyzed the occurrence of cancer in a nationwide cohort including all 5,099,172 Swedish women born after 1931 with at least one known first-degree relative. This was a record linkage study of Swedish family cancer datasets, including cancer registry data collected from January 1, 1958, to December 31, 2015. We calculated standardized incidence ratios (SIRs) and 10-year cumulative risk of breast cancer diagnosis for women with a family history of in situ and invasive breast cancer.ResultsHaving one first-degree relative with breast carcinoma in situ was associated with 50% increased risk of invasive breast cancer (SIR = 1.5, 95% CI 1.4–1.7) when compared to those who had no family history of invasive breast cancer or breast carcinoma in situ in either first- or second-degree relatives. Similarly, having one first-degree relative with invasive breast cancer was associated with 70% (1.7, 1.7–1.8) increased risk. The 10-year cumulative risk for women at age 50 with a relative with breast carcinoma in situ was 3.5% (2.9–3.9%) and was not significantly different from 3.7% (3.6–3.8%) risk for 50-year-old women with a relative with invasive breast cancer (95% confidence intervals overlapped).ConclusionsThe risk of invasive breast cancer for women with a family history of breast carcinoma in situ was comparable to that for women with a family history of invasive breast cancer. Therefore, family history of breast carcinoma in situ should not be overlooked in recommendations for breast cancer prevention for women with a family history of breast cancer.

Highlights

  • Wide implementation of mammography screening has resulted in increased numbers of women diagnosed with breast carcinoma in situ

  • Risk by family history constellation In women of all ages, having one first-degree relative with breast carcinoma in situ was associated with about 50% increased risk of breast cancer (SIR = 1.5, 95% confidence intervals (CIs) 1.4–1.7) compared to having no family history of in situ or invasive breast cancer in first-degree and seconddegree relatives (Table 1)

  • The risk of breast cancer for women with a first-degree relative with in situ tumor was increased for younger women below age 50 years (1.6, 1.3–1.9)

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Summary

Introduction

Wide implementation of mammography screening has resulted in increased numbers of women diagnosed with breast carcinoma in situ. We aimed to determine the risk of invasive breast cancer in relatives of patients with breast carcinoma in situ in comparison to the risk in relatives of patients with invasive breast cancer. Implementation of populationwide screening programs has resulted in an increased number of women diagnosed with breast carcinoma in situ [4, 5] and an increasing number of women reporting a family history of breast cancer and breast carcinoma in situ [6]. The majority of predisposing genetic changes linked to invasive breast cancer are linked to in situ disease, supporting the view that breast carcinoma in situ and invasive carcinoma may represent different phases of the same disease [8]

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