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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 …
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.