Session # 407

The impact of high and moderate penetrance breast cancer gene alterations on familial cascade testing in multi-gene panel positive probands

  • We observed a steady increase in MGPT ordered for family members of positive probands between 2013 (9.8%) and 2016 (15.5%) and a slight decrease in single site orders between 2013 (85.9%) and 2016 (82.9%)
  • Of the 3187 total probands that received a positive finding on a breast cancer MGPT, 36.7% had at least one family member who received follow up genetic testing while the remaining 63.3% had no subsequent family members tested.
  • Ordering providers may be more likely to order MGPT for family members when the proband receives a moderate penetrance positive result

  • Authors: Patrick Reineke; Stephany Tandy-Connor; Pia Summerour; Camerun Washington; Holly LaDuca
  • Conference: American College of Medical Genetics and Genomics (ACMG)
  • Date: Thursday, Apr 12, 2018 10:00am - 11:30am

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