Lynch syndrome

Overview

What is Lynch syndrome?

Lynch syndrome is a cancer condition caused by genetic changes in the MLH1, MSH2, MSH6, PMS2, or EPCAM genes. Genetic changes in these genes can be passed from parent to child. In other words, Lynch syndrome runs in families. Lynch syndrome is the most common cause of hereditary colon cancer. People with a genetic change in a gene associated with Lynch syndrome have an increased risk for certain types of cancer, including colorectal, uterine, ovarian, and stomach cancers. Both men and women can have Lynch syndrome.

References
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Are there other names for Lynch syndrome?

How common is Lynch syndrome?

Are there any other diseases that look a lot like Lynch syndrome?

Are there other names for Lynch syndrome?

Lynch syndrome is formally known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC) syndrome. Lynch syndrome was named after Dr. Henry Lynch who first identified this condition.

Muir-Torre syndrome is a form of Lynch syndrome. People with this condition typically have sebaceous neoplasms or small growths on the skin in addition to a personal and/or family history of Lynch syndrome-related cancers.

References
How common is Lynch syndrome?

Lynch syndrome is the most common cause of hereditary colorectal cancer. More specifically, Lynch syndrome accounts for 2-4% of all colorectal cancers. Less than 1% of the general population (1 in 440 people) has a genetic change, or mutation, in a gene associated with Lynch syndrome.

References
  • Lynch syndrome. [Internet]. Genetics Home Reference. [Reviewed January 2020]. Available from: http://ghr.nlm.nih.gov/condition/lynch-syndrome
  • Chen S, Wang W, Lee S, Nafa K, Lee J, Romans K, Watson P, Gruber SB, Euhus D, Kinzler KW, Jass J, Gallinger S, Lindor NM, Casey G, Ellis N, Giardiello FM, Offit K, Parmigiani G. Colon Cancer Family Registry. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006;296:1479-87.
Are there any other diseases that look a lot like Lynch syndrome?

Lynch syndrome is caused by mutations, or genetic changes, in the MLH1, MSH2, MSH6, PMS2, or EPCAM genes.

Muir-Torre syndrome is a form of Lynch syndrome. People with this condition typically have sebaceous neoplasms or small growths on the skin in addition to a personal and/or family history of Lynch syndrome-related cancers. This condition is also caused by genetic changes in the MLH1 or MSH2 genes.

Turcot syndrome is also a form of Lynch syndrome. People with this condition have a type of brain tumor called a glioblastoma in addition to a personal and/or family history of Lynch syndrome-related cancers. This condition is caused by genetic changes in the MLH1 and PMS2 genes. Turcot syndrome is also considered to be a form of familial adenomatous polyposis (FAP). People with this form of Turcot syndrome have colon polyps and a different type of brain tumor called a medulloblastoma in addition to a personal and/or family history of features associated with FAP. This form of Turcot syndrome is cause by mutations in the APC gene.

There are also other hereditary colorectal cancer syndromes. For example:

  • MUTYH-Associated Polyposis (MAP) (MUTYH gene) increases the risk for colorectal and other cancers
  • Familial Adenomatous Polyposis (FAP) or Attenuated-FAP (APC gene) increases the risk for colorectal, stomach, pancreatic, and other cancers
  • Juvenile Polyposis syndrome (BMPR1A and SMAD4 genes) increases the risk for colorectal, stomach, pancreatic, and other cancers
  • Puetz-Jeghers syndrome (STK11 gene) increases the risk for breast, colorectal, stomach, small bowel, pancreatic, and other cancers
  • Cowden syndrome (PTEN gene) increases the risk for breast, thyroid, uterine, kidney, and other cancers
  • Li-Fraumeni syndrome (TP53 gene) increases the risk for multiple cancers including breast, sarcoma, brain, adrenocortical carcinoma, and other cancers
  • Hereditary Diffuse Gastric Cancer syndrome (CDH1 gene) increases the risk for breast, stomach, and colorectal cancer

There are also other hereditary cancer syndromes that are associated with breast, ovarian, uterine, and other cancers.

Furthermore, there are other genes, referred to as moderately penetrant genes, that are associated with hereditary cancer. Although moderate penetrance genes are associated with hereditary cancer, the cancer risks are not as high when compared to genes such as the Lynch syndrome genes. Moderate penetrance genes associated with an increased risk for colon and other cancers include CHEK2, POLD1, and POLE.

References

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