You are here

Article Text

Article menu
Download PDFPDF
Electronic letters
Little value from including cousins in individual risk assessment of hereditary breast cancer: a simulation study
  1. M A Jonker1,
  2. G H de Bock2,
  3. W E Hoogendoorn2,
  4. C J van Asperen3,
  5. J C van Houwelingen1
  1. 1Department of Medical Statistics, Leiden University Medical Centre, Leiden, The Netherlands
  2. 2Department of Medical Decision Making, Leiden University Medical Centre, Leiden, The Netherlands
  3. 3Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
  1. Correspondence to:
 Dr M A Jonker, Department of Medical Statistics, Leiden University Medical Centre, PO Box 9604, 2300 RC Leiden, The Netherlands;
 m.a.jonker{at}lumc.nl

https://doi.org/10.1136/jmg.40.3.e25

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Breast cancer is a common disease in women. The lifetime risk of breast cancer is about 1 in 12 in the UK, 1 in 10 in The Netherlands, and 1 in 8 in the USA.1 The majority of women are affected in the peri- or postmenopausal years: about 75% of all breast cancer cases are diagnosed after the age of 50.2 In western countries about 5 to 10% of breast cancer is the result of a genetic predisposition. The most important genes that are involved in this genetic predisposition and have been localised are BRCA1 and BRCA2,3,4 but these genes only explain a small proportion of the aggregation of breast cancer.5 The lifetime risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers is high, and women are generally affected at younger ages. The recent detection of these cancer genes has led to much media attention. As a consequence, an increasing number of women with one or more relatives with breast cancer visits a family cancer clinic with questions about their risk of developing breast cancer. At these clinics the woman’s risk of breast cancer based on the family history can be assessed. The aim of this risk assessment is to identify women with a genetic susceptibility and an associated increased risk of developing breast cancer. The individual risk assessment is very important, particularly for the women whose risk of developing breast cancer is deemed to be at least moderately increased, because decisions have to be made about breast surveillance and possibly DNA testing. This leads to an increasing need for accurate prediction methods to assess individual risks of breast cancer.

    Current guidelines for risk assessment are often based on the family history of breast cancer in the first and second degree …

    View Full Text