Flashcards in 52. Lynch syndrome Deck (7)
Lynch syndrome is AKA
Hereditary non polyposis colorectal cancer ( HNPCC)
Lynch syndrome - definition/ mode of inheritance/ course
AD mutation of DNA mismatch repair genes with subsewuent microsattelite instability --> 80% progress to CRC ( proximal colon in always involved)
lynsch syndrome - cancers ?
1. Colorectal ( de novo, not from adenatous polyp)
• A woman is diagnosed with endometrial cancer and has multiple relatives with skin and colorectal cancer. What syndrome do you suspect?
Lynch syndrome, or HNPCC (requires 3 relatives with Lynch syndrome across 2 generations, at least 1 found before age 50)
• Hereditary nonpolyposis colon cancer, or Lynch syndrome, involves mutations of DNA ____ genes. It is of autosomal ____ inheritance.
Mismatch repair; dominant
• If working up a patient for HNPCC, what part of the bowel do you biopsy? What gene mutation would you look for in the biopsied tissue?
The proximal colon (is always involved); screen for mutations of DNA mismatch repair genes with subsequent microsatellite instability