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Over-representation of PMS2CL pseudogene interference in PMS2 testing in a non-European cohort

Date:
Friday, Mar 21, 2025 10:30am – 11:30am
Conference:
ACMG 2025
Authors:
Ashley P.L. Marsh, Ayanna Boyce, Caitlin Reid, Colby L. Chase, Emily Maxwell, Katie Lang, Kevin Beezhold, Marcy E. Richardson, Timothy Komala

Presenting Author: Colby Chase, MS, CGC

Take home points: 

  1. Gross del/dups within exons 11-15 of PMS2 or is homologous region in PMS2CL that require follow-up were over-represented in a non-European group vs. European.
  2. Methodologies for follow-up analysis were able to sufficiently differentiate the majority of del/dups within this region, regardless of ancestry.
  3. It is not known whether the same follow-up analysis strategies are used across laboratories
Poster Abstract