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Constitutional or biallelic? Settling on a name for a recessively inherited cancer susceptibility syndrome
  1. Katharina Wimmer1,
  2. Laurence Brugières2,
  3. Alex Duval3,4,
  4. Martine Muleris3,4,
  5. Christian P Kratz5,
  6. Hans F A Vasen6
  1. 1Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria
  2. 2Department of Children and Adolescents Oncology, Gustave Roussy Cancer Campus, Villejuif, France
  3. 3INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France
  4. 4Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France
  5. 5Department of Pediatric Hematology & Oncology, Hannover Medical School, Hannover, Germany
  6. 6Department of Gastroenterology & Hepatology, Leiden University Medical Centre, Leiden, The Netherlands
  1. Correspondence to Dr Katharina Wimmer, Division of Human Genetics, Medical University Innsbruck, Innsbruck 6020, Austria; katharina.wimmer{at}

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Homozygous or compound heterozygous, that is, biallelic, germ-line mutations in one of the four mismatch repair (MMR) genes cause a rare condition that has only recently been recognised as a distinct childhood cancer susceptibility syndrome. As such there is still a lack of awareness of the condition among paediatric oncologists. Timely recognition of the condition that results in an extraordinarily high cancer risk also has far-reaching consequences for other family members. It is therefore important that the medical and scientific community reaches agreement on a standard name for this condition, because the use of different names could potentially create confusion. It is for this reason that we …

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  • Contributors KW drafted the comment. LB, AD, MM, CPK and HFAV revised the comment.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; internally peer reviewed.