Session # P063, Group 1

Small-Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) has approximately 20-30% penetrance in individuals carrying loss-of-function mutations in SMARCA4

Loss- of -function (LoF) alterations in SMARCA4 are associated with a rare and highly aggressive type of ovarian cancer, known as small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT), typically diagnosed between childhood and early 40s. SMARCA4 was first reported in association with this phenotype in 2013. With fewer than 1000 patients described in the literature since, penetrance is not well-defined. Here, we aimed to estimate the crude penetrance of SCCOHT.

  • Authors: Jamie D. Weyandt, PhD, Colin Young, PhD, Linda Polfus, PhD, John Ranola, PhD, Cassidy Carraway, Carolyn Horton, MS, CGC, Marcy E. Richardson, PhD
  • Conference: BRCA Symposium 2023
  • Date: Tuesday, May 02, 2023 2:45pm - 4:15pm

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