Constitutional Mismatch Repair Deficiency Syndrome (CMMRD)

Most people have two working copies of each of the MMR genes in their cells.  One copy is inherited from the mother and one from the father. A change in the gene that causes it to not work properly is called a mutation.  When someone inherits an MMR gene mutation from the mother and another mutation in the same MMR gene from the father, they have constitutional mismatch repair deficiency syndrome. In other words, this person has a mutation affecting each of the 2 copies of an MMR gene.

https://www.stjude.org/disease/constitutional-mismatch-repair-deficiency.html?fbclid=IwAR1qSdCId0AVt91vRGXrdzTGaVx56y_d0AKHc9FEm-Iq0L-YEIhDfp9yBAE

Lynch Syndrome: A Common Yet Under-Recognized Hereditary Cancer Predisposition

https://www.aboutgeneticcounselors.org/Resources-to-Help-You/Post/lynch-syndrome-a-common-yet-under-recognized-hereditary-cancer-predisposition

Lynch syndrome is the most common inherited predisposition to colorectal and endometrial (uterine) cancers, yet is it under-diagnosed. Around 90-95% of people who have Lynch syndrome are not aware of their condition.

This is a major concern because many of the cancers associated with Lynch syndrome are preventable or could be detected earlier through intensive cancer surveillance. Identifying patients with Lynch syndrome also helps with testing other members of their family who may be at risk and helps ensure access to care for patients who have high risks for cancer.

Mount Sinai Researchers Report Increasing Incidence of Early-Onset Colorectal Precancerous Lesions in First-of-Its-Kind Study of Patients Under Age 50

“Many clinicians are surprised when they find a precancerous polyp in someone younger than age 45. Our data provide new insights into how common these lesions are. Our data also suggest that clinically important lesions occur about five years earlier in individuals with a family history of colorectal cancer, compared to those without a family history,” says Dr. Itzkowitz. “That is why it is very important to take a good family history.”

https://www.mountsinai.org/about/newsroom/2022/mount-sinai-researchers-report-increasing-incidence-of-early-onset-colorectal-precancerous-lesions-in-first-of-its-kind-study-of-patients-under-age-fifty#

“Cancer Family. The Search for the Cause of Hereditary Colorectal Cancer.” 

“The book explains his research ingrained with his very captivating family story. Boland discovered that the key factor in his family’s history of cancer was a hereditary mutation of a gene that caused, what he named, “Lynch Syndrome.””

https://g.co/kgs/1W15qo

#Doorman(What is Lynch Syndrome?)

What is Lynch Syndrome? (Thanks to Sir John Burn Lynch Syndrome UK Conference 2015)

We all inherit our DNA 50% from each parent. If we have LS then one of our repair genes is good while the other one is faulty.

Think of the repair genes as two Doormen on the door at a night club. Nothing is going to get past them that shouldn’t. This is a person without LS

Imagine one of the Doormen needs the toilet and walks off. We still have one doorman watching and keeping us safe. This is a person with LS

Imagine the other doorman now needs to toilet and leaves. Nobody is now watching door. This is what happens when one good gene goes faulty for what ever reason. Anybody can just walk in now

In brief, we only have one repair gene looking out for us and if it gets damaged in a cell we are left with no protection.

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