Lynch Syndrome

What is it?

Lynch Syndrome is a hereditary disorder caused by a mutation in a mismatch repair gene in which affected individuals have a higher than normal chance of developing colorectal cancer, endometrial cancer, and various other types of aggressive cancers, often at a young age – also called hereditary nonpolyposis colon cancer (HNPCC). (Lynch Syndrome International, 2015)

 

Lynch in My Family Tree

My family members, including my sister and me, have the MSH6 mutation.  The statistics for MSH6 Lynch mutation indicate that we aren’t at as high a risk as other mutations. Only uterine cancer is higher for MSH6 — especially by the age of 70. [But one of my aunts had ovarian cancer at age 46.]

lynchsyndromecancer-risks

Dana-Farber Cancer Institute, Lynch Syndrome Cancer Risks, 2013, http://goo.gl/vxTIKU

 

Family Members Impacted:

  • My paternal great-grandparents.
  • My paternal grandparents.
  • Their siblings.
  • Their children.
  • My generation.

 

Family Statistics

Of my grandmother’s 7 brothers and sister, 6 developed colon cancer.

Roughly 63% of tested relatives from my dad’s generation tested positive for Lynch. They all have had cancer.

From my generation, two have already had cancer — both under the age of 40. And 75% of the relatives in my generation who have been tested also tested positive for Lynch.

Running list of Lynch cancers (and others) my family members have developed:

  • Pancreatic
  • Ovarian
  • Endometrial
  • Skin
  • Colon
  • Prostate
  • Pancreas
  • Bladder
  • Breast
  • Thyroid

Some of the Lynch cancers are considered so rare (especially for the MSH6 mutation), that — I am told by some doctors — I don’t even need to worry about them. The research, the numbers, say so.

But I am learning that statistics aren’t as accurate in representing reality as I had been taught.

 

But — and this is important — there is always hope. Always.

 

Lynch Syndrome Resources

 

How I Cope

Most of my attempts to cope as I live with this genetic mutation can be found here on my blog.