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

Noralane M. Lindor, Tom C. Smyrk, Sheila Buehler, Shanaka R. Gunawardena, Brittany C. Thomas, Paul Limburg, Salman Kirmani, Stephen N. Thibodeau

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)667-669
Number of pages3
JournalFamilial Cancer
Issue number4
StatePublished - Dec 2012


  • Double heterozygote
  • Familial Adenomatous Polyposis
  • Jejunum
  • Lynch Syndrome

ASJC Scopus subject areas

  • Genetics
  • Oncology
  • Genetics(clinical)
  • Cancer Research


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