hereditary colon cancer syndrome

Introduction

Includes:

• familial nonpolyposis colon cancer +
• some intestinal polyposis syndromes

Genetics

• implicated genes:
  • APC, MLH1, MSH2, MSH6, PMS2, EPCAM, CHEK2, MUTYH

Laboratory

• hereditary colon cancer syndrome genomic sequencing
• hereditary colon cancer syndrome gene duplication & deletion analysis

More general terms

• hereditary neoplastic syndrome; cancer susceptibility syndrome

More specific terms

• adenomatous polyposis coli (APC); familial adenomatous polyposis (FAP)
• Cronkhite-Canada syndrome
• familial nonpolyposis colon cancer; hereditary nonpolyposis colorectal cancer (HNPCC); Lynch syndrome; cancer family syndrome
• Turcot-Despres syndrome (mismatch repair cancer syndrome, MMRCS, brain tumor-polyposis syndrome 1)

Additional terms

• adenocarcinoma of the colon &/or rectum