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About 3% of all colorectal cancers are attributable to Lynch syndrome, which is characterized by germline mutations in one of the four mismatch repair genes. Lynch syndrome is inherited in autosomal dominant fashion, meaning that only one allele need be affected to express the clinical syndrome. Biallelic mismatch repair deficiency could be anticipated to be both rare and devastating.
An international consortium identified 35 individuals in seven countries with biallelic mismatch repair deficiency. Among 24 patients with available data, results were as follows:
The youngest patient with colorectal adenomas was aged 7 years, and the youngest with small bowel adenomas was aged 11 years.
Nineteen colorectal cancers were diagnosed in 8 patients at…