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Biallelic Mismatch Repair Deficiency Syndrome Guidance

Gastroenterology; ePub 2017 Mar 28; Durno, et al

The United States Multi-Society Task Force on Colorectal Cancer recently arrived at a consensus designed to help clinicians caring for patients with biallelic mismatch repair deficiency (BMMRD) syndrome, or constitutional mismatch repair deficiency syndrome. The task force statement:

  • Outlines the genetic and clinical features that make BMMRD syndrome unique.
  • Reviews the current management of the disorder.
  • Discusses the paucity of evidence on BMMRD syndrome.
  • Recognizes that despite the lack of evidence, clinicians still need advice on how to detect and manage patients with the disorder.

Citation:

Durno C, Boland CR, Cohen S, et al. Recommendations on surveillance and management of biallelic mismatch repair deficiency (BMMRD) syndrome: A consensus statement by the US Multi-Society Task Force on Colorectal Cancer. [Published online ahead of print March 28, 2017]. Gastroenterology. doi:10.1053/j.gastro.2017.02.011.