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The predictive value of BRCA1 and BRCA2 mutation testing.

A Bansal¹, G C Critchfield, T S Frank

¹Department of Medical Informatics, University of Utah, Salt Lake City 84108, USA.

Genetic Testing

|May 4, 2000

Summary

Genetic testing for BRCA1 and BRCA2 mutations offers high accuracy for women with a family history of breast and ovarian cancers. This study quantifies the predictive value of these tests, aiding clinical interpretation.

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Area of Science:

Genetics
Oncology
Medical Diagnostics

Background:

BRCA1 and BRCA2 gene mutations significantly increase breast and ovarian cancer risk.
Genetic testing is available for individuals with a relevant family history of these cancers.

Purpose of the Study:

To estimate the positive and negative predictive values of clinical sequence analysis for BRCA1 and BRCA2 mutations.
To provide a numerical basis for interpreting BRCA testing results in clinical practice.

Main Methods:

Developed a reference graph for positive and negative predictive values based on pre-test risk.
Incorporated the sensitivity and specificity of full-sequence analysis for BRCA1 and BRCA2.

Main Results:

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High positive and negative predictive values were observed for women with a pre-test risk between 4% and 40%.

The predictive value of BRCA1 and BRCA2 full-sequence and single-site analysis is comparable to other diagnostic medical tests.

Conclusions:

BRCA1 and BRCA2 genetic testing demonstrates strong predictive values within common clinical risk ranges.
The study provides valuable quantitative data to assist healthcare providers and families in interpreting genetic test results for hereditary cancer risk.