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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)
2. ovarian
3. endometrial
4. skin


• 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


• What percentage of patients with HYPNCC will progress to have colorectal cancer?

Approximately 80%

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