Cited by 1,345BRCA gene mutations in cancerCancer Risks and FactorsGlobal Cancer Incidence and Screening

A breast cancer prediction model incorporating familial and personal risk factors

Tyrer, Jonathan, Duffy, Stephen W., Cuzick, Jack·2004·Statistics in Medicine

Abstract

An Erratum has been published for this article in Statistics in Medicine 2005; 24(1):156. Please note that the corresponding author's e‐mail address has now changed. For further details please click on the link below. DOI: 10.1002/sim.1913. Many factors determine a woman's risk of breast cancer. Some of them are genetic and relate to family history, others are based on personal factors such as reproductive history and medical history. While many papers have concentrated on subsets of these risk factors, no papers have incorporated personal risk factors with a detailed genetic analysis. There is a need to combine these factors to provide a better overall determinant of risk. The discovery of the BRCA1 and BRCA2 genes has explained some of the genetic determinants of breast cancer risk, but these genes alone do not explain all of the familial aggregation of breast cancer. We have developed a model incorporating the BRCA genes, a low penetrance gene and personal risk factors. For an individual woman her family history is used in conjuction with Bayes theorem to iteratively produce the likelihood of her carrying any genes predisposing to breast cancer, which in turn affects her likelihood of developing breast cancer. This risk was further refined based on the woman's personal history. The model has been incorporated into a computer program that gives a personalised risk estimate. Copyright © 2004 John Wiley & Sons, Ltd.

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Authors
Tyrer, J., Duffy, S. W., & Cuzick, J.
Affiliations
Cancer Research UK (GB)
Corresponding author
Cuzick, Jack
Venue
Statistics in Medicine
Publisher
Wiley
Published
2004-03-23
Volume
23
Issue
7
Pages
1111-1130
ISSN
  • 0277-6715 (ISSN-L)
  • 1097-0258
OpenAlex
W2098433299
Cited by
1,345
References
0
Citations by year
2026: 56 · 2025: 71 · 2024: 93 · 2023: 105 · 2022: 92 · 2021: 81 · 2020: 90 · 2019: 94 · 2018: 68 · 2017: 74 · 2016: 62 · 2015: 67 · 2014: 56 · 2013: 66 · 2012: 42
FWCI
12.67
Type
journal article
Language
en
Open access
closed
Locations
  • Statistics in Medicine (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Health Sciences › Medicine › Oncology › Cancer Risks and Factors
  • Health Sciences › Medicine › Oncology › Global Cancer Incidence and Screening
Keywords
breast cancer risk prediction, family risk factors, individual risk factors, BRCA1, BRCA2, low-penetrance genes, family history (medicine), reproductive history, Bayesian risk estimation, genetic susceptibility
MeSH terms
Adult, Age Factors, Aged, Bayes Theorem, Breast Neoplasms, Female, Humans, Middle Aged, Models, Genetic, Pedigree, Risk Factors, Models, Statistical, Genes, BRCA1, Genetic Predisposition to Disease, Genes, BRCA2

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