Session # 2376F

Comparison of variant classification algorithms incorporating clinical and family history for breast and ovarian cancer.

  • Pathogenic mutations are more likely to occur in high-risk individuals while benign variants are unrelated to personal and family history.
  • We compared two existing statistical approaches for incorporating family history in models predicting variant pathogenicity: logistic regression and family history weighting algorithm.
  • Our data show that combining the strength of logistic regression model and variant-specific thresholds may improve variant pathogenicity prediction based on personal and family history.

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