Ziling Fang

Constitutional mismatch repair deficiency presenting with six primary malignancies over nearly 8 years: a case report

Constitutional mismatch repair deficiency (CMMRD) is a rare cancer predisposition syndrome typically manifesting in early childhood. We report an atypical, adult-onset case of CMMRD in a 26-year-old female harboring a homozygous PMS2 germline nonsense mutation (NM_000535.7:c.1738...