March 22 is Lynch Syndrome Day
Posted over 1 year ago in Cancer Awareness
In the United States, it is estimated that 1 in 279 individuals have a genetic mutation associated with Lynch syndrome.
Everyday health
Lynch Syndrome is a hereditary disorder associated with an increased predisposition to many cancers. Colorectal cancer is the most common cancer to be caused by lynch syndrome. Stomach cancer and other GI cancers have been linked to lynch syndrome but it can also cause other types of cancer. Uterine (endometrial) cancer is the 2nd most common cancer caused by lynch syndrome.
Changes in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene have been found in people with Lynch syndrome. The MLH1, MSH2, MSH6, and PMS2 genes are involved in repairing errors that occur when DNA is copied in preparation for cell division (a process called DNA replication). Because these genes work together to fix DNA errors, they are known as mismatch repair (MMR) genes. Variants in any of these genes prevent the proper repair of DNA replication errors. As the abnormal cells continue to divide, the accumulated errors can lead to uncontrolled cell growth and possibly cancer. Variants in the MLH1 or MSH2 gene tend to lead to a higher risk (70 to 80 percent) of developing cancer in a person's lifetime, while variants in the MSH6 or PMS2 gene have a lower risk (25 to 60 percent) of cancer development.
Variants in the EPCAM gene also lead to impaired DNA repair, although the gene is not itself involved in this process. The EPCAM gene lies next to the MSH2 gene on chromosome 2 and certain EPCAM gene variants cause the MSH2 gene to be turned off (inactivated). As a result, the MSH2 gene's role in DNA repair is impaired, which can lead to accumulated DNA errors and cancer development.
Although variants in these genes predispose individuals to cancer, not all people with these variants develop cancerous tumors.
Get more information at:
- AliveAndKickn www.aliveandkickn.org/
- Fight Lynch Syndrome https://fightlynch.org/
- Living with Lynch www.livingwithlynch.org/
- Lynch Syndrome (cancer.net) www.cancer.net/cancer-types/lynch-syndrome
- Lynch Syndrome (CDC) www.cdc.gov/genomics/disease/colorectal_cancer/lynch.htm