Lynch syndrome

Overview

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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/lynch-syndrome-i/overview/2212 • DATE UPDATED: 2020-01-09

References

Petrucelli N, Daly MB, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. 1998 Sep 4 [Updated 2016 Dec 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1247/

Kohlmann W, Gruber SB. Lynch Syndrome. 2004 Feb 5 [Updated 2018 Apr 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1211/

http://www.cancer.net/cancer-types/turcot-syndrome

Lynch syndrome. [Internet]. Genetics Home Reference. [Reviewed January 2020]. Available from: http://ghr.nlm.nih.gov/condition/lynch-syndrome

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