Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations

Document Type



Paediatrics and Child Health


Double heterozygotes for mutations in APC and a DNA mismatch repair gene are extremely rare. We report on an individual who had truncating mutations in APC and MLH1 whose clinical presentation initially resembled Familial Adenomatous Polyposis but then emerged as a novel phenotype with multiple jejunal carcinomas. We have reviewed the relevant literature on double heterozygotes and based on what has been reported to date, this phenotype was not anticipated. It may be useful for clinicians to be aware of this observation as clinical screening guidelines are proposed for such individuals.


This work was published before the author joined Aga Khan University.

Publication (Name of Journal)

Familial Cancer