Researchers identify more effective, cost-efficient test for breast cancer risk

Certain variants of the BRCA1 and BRCA2 genes are well recognized to raise a woman’s risk of inherited breast cancer. A growing body of research finds that five lesser-known genes, including TP53 and PTEN, also raise this risk, according to a study published in the April 2017 issue of Value in Health, the journal of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR).

Researchers at Quest Diagnostics developed a decision-making model for hypothetical cohorts of 50-year-old and 40-year-old asymptomatic women with a family history of breast or ovarian cancer or other hereditary syndromes. The model compared two strategies for detecting pathogenic genetic variants and using the test result to select appropriate breast cancer risk reduction: the usual care strategy tests for variants in the BRCA1 and BRCA2 genes and the other strategy tests for variants in the BRCA1, BRCA2, TP53, PTEN, CDH1, STK11, and PALB2 genes (seven-gene testing). The risk-reduction procedures are those recommended by National Comprehensive Cancer Network guidelines, and the probabilities of breast cancer and death used in the model are based on the peer reviewed literature.

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Written by Tracey Walker for Modernmedicinenetwork.com