Hereditary Cancer in Clinical Practice (Apr 2022)

CMMRD caused by PMS1 mutation in a sudanese consanguineous family

  • Reem S. Hamad,
  • Muntaser E. Ibrahim

DOI
https://doi.org/10.1186/s13053-022-00222-4
Journal volume & issue
Vol. 20, no. 1
pp. 1 – 3

Abstract

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Abstract A consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported in association to a CMMRD phenotype.

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