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Right-click here and choose Save As... to save the Risk Assessment presentation to your computer. Once the file is saved, open it in PowerPoint to see the notes included in the presentation. COMPREHENSIVE FAMILY HISTORY AND PEDIGREES Additional tools are available to assist with risk assessment. For some patients, additional family history information may be helpful. The Comprehensive Family History Questionnaire (PDF) allows the patient to write in his or her complete family history and provide it to you at the risk assessment visit. This document is provided as a part of this Resource Guide in Word format so that you may customize it to best fit your needs. Some centers choose to summarize a patient’s family history in pedigree format. A pedigree is a symbolic representation of a family history of a certain condition. Not everyone chooses to represent family history using a pedigree, however, it can be an easy visual aid in evaluating a patient’s hereditary cancer risk. Many centers draw pedigrees by hand, but some choose to use computer programs to create pedigrees. For more detailed information on symbols used in pedigrees and computer pedigree drawing and risk assessment programs, click here. For a pedigree drawing template, click here (Word). If you have a patient that you suspect has hereditary
breast and ovarian cancer syndrome, there is a way to estimate
the likelihood of identifying a BRCA1 or BRCA2 mutation. Myriad Genetic Laboratories, Inc. has compiled data on
over 10,000 patients who have had clinical testing for BRCA1 and BRCA2. The personal and family cancer
histories of these patients as well as their testing outcomes have
been collated into BRCA Mutation
Prevalence Tables (pdf)
that are available to healthcare practitioners. Additionally, information about the prevalence of MLH1 and MSH2 mutations in various patients is available. Please see the HNPCC Mutation
Prevalence Tables (pdf) for this data. |
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Once you have identified a high-risk patient, there are several
ways to assess his or her hereditary risk. Many professional societies
have published guidelines regarding risk assessment for hereditary
cancer. The following presentation highlights the general features
of hereditary cancer as well as published guidelines. While the
main points are covered on each slide, more detailed information
is contained in the associated notes pages.