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What is Lynch syndrome?


What is Lynch syndrome?  On a rudimentary level, it is a rare genetic defect on the DNA that affects the proper replication of cells.  Without warning, a cell will create a mutation of an original healthy cell, and will continue to excessively reproduce this mutated cell, resulting in a cancerous condition.  Lynch syndrome is passed from parent to child.  If the parent has it, their children have a fifty-fifty change of inheriting this mutation.  Important note:  Lynch does not skip generations.  It is considered a sister mutation to the BRCA1 gene mutation with which Angelina Jolie was recently diagnosed.  However, because Lynch syndrome affects far more systems of the body than BRCA1, it is far more heinous.  Little is known about this condition.  The estimation is that only about 15 percent of the doctors worldwide have even heard of it.  There are several different mutations that fall under the category of Lynch.  MSH6 is mine.

Here is a list of the body parts and their percentage rates above the regular population to which the MSH6 mutation predisposes an individual to cancer, some of which are transitional cell carcinomas:

  • Endometrial                           44%           
  • Colorectal                             20%           
  • Stomach                                13%           
  • Ovarian                                 10-12%           
  • Esophageal                           up to 10%           
  • Renal pelvis                          up to 10%           
  • Ureter                                    up to 10%           
  • ​Brain (glioblastoma)              up to 10%           
  • Pancreato-biliary tract          up to 10%           
  • Small bowel                           up to 10%

Surveillance of MSH6 patients includes the following:


  • Transvaginal ultrasound every six months           
  • Endometrial biopsy every year           
  • CA-125 blood test every year       
  • Colonoscopy every year           
  • EGD with extended duodenoscopy every two years   
  • Urinalysis with cytology every year       
  • Annual history and physical, and brain MRI if symptomatic for tumor

​           Prophylactic hysterectomy with bilateral salpingo oophorectomy is recommended to all women over the age of 40.