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Summary

  1. Quick Start Guide
    1. Overview
    2. Input the risk factors
    3. Build the family history
    4. Compute the risks
  2. Educational Resources

1. Quick Start Guide

A. Overview

The CanRisk Tool must only be used by qualified healthcare professionals. This version of the tool has been optimised for use in the specialist genetics setting; other versions of the tool will become available in due course. It enables you to calculate future breast/ovarian cancer risks for women and prostate cancer risks for men and their estimated risk of carrying a pathogenic gene variant.

The tool prompts you to enter the risk factors (e.g. age, lifestyle, hormonal), genetic test results and family history data, and uses this information to calculate the cancer risks. To compute risks using the CanRisk Tool, follow the steps below.

B. Input the risk factors

The CanRisk tool (Figure 1) enables you to enter the risk factors in separate sections. Click on each section heading (e.g. Lifestyle, Figure 1) to open the section and complete the questions within it. You can complete the sections and questions within them in any order, and the section heading itself will turn green (e.g. Lifestyle, Figure 1) when you have completed all the questions within it. You must specify mandatory input marked with a warning icon (e.g. date of birth, Figure 1).

Figure 1. CanRisk Tool
CanRisk Tool

You will be prompted to enter the following information in each section. Note some sections are only required for women.

  1. Personal details
    • sex and year of birth are required
    • ethnicity (UK ethnic groups only)
    • height and weight (used to calculate BMI) - women only
  2. Lifestyle - women only
    • alcohol consumption
  3. Children - women only
    • age of first birth
    • number of children
  4. Breast Screening - women only
    • mamographic density (BI-RADS, Volpara, Stratus)
  5. Medical History
    • age of diagnosis of breast, ovarian (women only), prostate (men only) or pancreatic cancers
  6. Genetic Tests
    • results of any genetic tests
    • results of any SNP array or Polygenenic Risk Score tests
  7. Family History
    • family history data (age, cancers, pathology, genetic tests), see below for details on building a family history

C. Build the family history

When you click on the last section in the CanRisk tool menu Family History (Figure 1) this opens a graphical pedigree editor (Figure 2) which enables you to build the family history for the individual.

Figure 2. Pedigree drawing nomenclature is used to represent males with squares and females with circles. Clicking on a family member shows their details in the panel on the right of the pedigree. The age and year of birth of family members need to be entered for them to included in the risk calculation and when entered they are marked with a thicker outline.
Family History

Adding family members

You can add family members using the following methods:

  1. When you first open the Family History section (CanRisk tool menu: Figure 1), the Family - Building Options window (Figure 3) appears. You can use this to add brothers, sisters, sons, daughters, uncles, aunts, grandparents to your pedigree.
    Figure 3. Family - Building Options
    Edit Family

  2. Once you have started to build your pedigree, place the mouse pointer over an individual, in the graphical pedigree editor, to reveal the widgets (table 1) used for editing. You can use these widgets to add partners, parents, siblings, children, consanguineous partners.
    WidgetDescription WidgetDescription
    add a partner male
    add parents female
    add a sibling unknown
    add a child dizygotic (fraternal) twin
    handleadd consanguineous partner monozygotic (identical) twin

You can add half siblings by clicking the link widget on the parent that is common to both siblings – this will create a new partner.

You can add consanguineous partners, e.g. cousins. Place the mouse over an individual and click and drag the triple dashed line widget handle to link to his/her new partner.

D. Compute the risks

When you have entered your pedigree (as much reliable information as possible), click the 'Calculate' button (Figure 1) to run the risk calculation and view the individuals pathogenic variant carrier probabilities and breast/ovarian/prostate cancer risks the results tabs (Figure 4). You can use the tabs at the top to go back to the CanRisk tool menu and graphical pedigree editor to update your pedigree and run multiple risk calculations.

Figure 4. Result Tabs
CanRisk Tool

2. Educational Resources

The section is subject to review and new resources may be added. Please see the CanRisk YouTube Channel.