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Models Offer Guidance on Breast Cancer Variants

Models classified 64 percent of unknown variants as neutral; could be clinically useful

WEDNESDAY, Oct. 1 (HealthDay News) -- Newly developed classification models for BRCA variants of uncertain significance (VUS) may provide useful information to patients for their risk-management decisions, according to research published online Sept. 29 in the Journal of Clinical Oncology.

Andrew D. Spearman, of the Ohio State University in Columbus, and colleagues analyzed data from 57 tumors with deleterious BRCA mutations and 57 tumors with classified and/or unclassified variants. Roughly 7 percent of high-risk individuals who have had BRCA1 or BRCA2 testing through one lab have a VUS, and most variants remain unclassified.

Using four models they developed, which don't rely on family history information or segregation analysis, the investigators characterized 21 of 33 previously unclassified BRCA VUS as neutral. The models had 98 percent sensitivity for known or predicted deleterious mutations.

"These models can be readily adapted for use in the clinical setting or for an online clinical prediction tool because all of the weighting factors, except for loss of heterozygosity, are available from mutation and pathology reports, online programs and published resources," the authors write. "Individuals and their at-risk family members who carry a BRCA VUS often delay making decisions about their cancer risk management or make management decisions based on uncertain information.… Classification of 21 previously unclassified VUS using the models described here has the potential to help the individuals who carry these variants."

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