Lynch syndrome

Common Name(s)

Lynch syndrome, Hereditary non-polyposis colorectal cancer (HNPCC)

Lynch syndrome is a genetic condition that causes an increased risk for several different types of cancer. People with Lynch syndrome have a lifetime cancer risk of 52-82% for colorectal (cancer of the colon or rectum), 25-60% for endometrial (cancer of the inner lining of the uterus), 6-13% for gastric (stomach cancer) and 4-12% for ovarian cancer. Lynch syndrome also causes a higher risk for cancer of the upper urinary tract, kidneys, small intestine, skin, and brain.

Lynch syndrome is caused by a mutation (change) in one of several genes important in our cell’s DNA (genetic code) repair. Mistakes happen when a cell makes a copy of its DNA during mitosis. Mitosis is the way our body’s cells make more cells (one cell splits into 2 cells). The MLH1, MSH2, MSH6, PMS2, and EPCAM genes make proteins which find and fix mistakes in the newly copied DNA. If one of these DNA repair proteins is missing, there is a greater chance for DNA copy errors to not be fixed, leading to the increased risk of certain cancers.

Mutations that cause Lynch syndrome can occur by chance for the first time in a family (de novo), but are often inherited from a parent in an autosomal dominant manner (a mutation in one copy of the gene causes the condition). People with Lynch syndrome will have a 50% chance of passing it on to any of their children.

Lynch syndrome is often diagnosed based on an individual’s cancer and family history. Genetic testing is used to confirm the diagnosis. If you or someone in your family has been diagnosed with Lynch syndrome, talk with a genetic counselor to discuss inheritance risks and testing options. Most doctors and specialists recommend you receive routine cancer screenings to catch any developing cancer in the early stages. Talk with your doctor about the most current options to screen for cancer. Support groups are a good source of information and help connect you with others living with Lynch syndrome.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lynch syndrome" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Colon Cancer Alliance for Research & Education for Lynch Syndrome

CCARE Lynch Syndrome is the national non-profit devoted to saving lives and leading the fight against Lynch syndrome through education, advocacy and research.

Last Updated: 5 Aug 2013

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Lynch Syndrome International

To provide support for those at high risk to hereditary Lynch syndrome cancers, public awareness of Lynch syndrome, education for medical offices and support for research endeavors.

Last Updated: 16 Jun 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lynch syndrome" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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Colon Cancer Alliance for Research & Education for Lynch Syndrome

CCARE Lynch Syndrome is the national non-profit devoted to saving lives and leading the fight against Lynch syndrome through education, advocacy and research.

http://fightlynch.org/

Last Updated: 5 Aug 2013

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Lynch Syndrome International

To provide support for those at high risk to hereditary Lynch syndrome cancers, public awareness of Lynch syndrome, education for medical offices and support for research endeavors.

http://www.lynchcancers.com

Last Updated: 16 Jun 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lynch syndrome" returned 319 free, full-text research articles on human participants. First 3 results:

Determinants of adherence to recommendations for cancer prevention among Lynch Syndrome mutation carriers: A qualitative exploration.
 

Author(s): Annemiek Visser, Alina Vrieling, Laxsini Murugesu, Nicoline Hoogerbrugge, Ellen Kampman, Meeke Hoedjes

Journal:

 

Lynch Syndrome (LS) mutation carriers are at high risk for various cancer types, particularly colorectal cancer. Adherence to lifestyle and body weight recommendations for cancer prevention may lower this risk. To promote adherence to these recommendations, knowledge on determinants ...

Last Updated: 1 Jun 2017

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Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
 

Author(s): Hellen Houlleberghs, Anne Goverde, Jarnick Lusseveld, Marleen Dekker, Marco J Bruno, Fred H Menko, Arjen R Mensenkamp, Manon C W Spaander, Anja Wagner, Robert M W Hofstra, Hein Te Riele

Journal:

 

Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nonsense and frameshift mutations that ...

Last Updated: 22 May 2017

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Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.
 

Author(s): Sofie V Nielsen, Amelie Stein, Alexander B Dinitzen, Elena Papaleo, Michael H Tatham, Esben G Poulsen, Maher M Kassem, Lene J Rasmussen, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen

Journal:

 

Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, ...

Last Updated: 19 Apr 2017

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lynch syndrome" returned 54 free, full-text review articles on human participants. First 3 results:

[Lynch syndrome: case report and review of the literature].
 

Author(s): Laila Bouguenouch, Imane Samri, Khadija Belhassan, Hanane Sayel, Meriame Abbassi, Sanae Bennis, Dafr Allah Benajah, Adil Ibrahimi, Afaf Amarti, Karim Ouldim

Journal:

 

Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancers. It increases cancer susceptibility, the risk of colorectal cancer in first-degree, endometrial cancer in women, and to a lesser extent, other cancers (ovarian, ...

Last Updated: 19 Sep 2016

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Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma.
 

Author(s): Bojana Djordjevic, Russell R Broaddus

Journal: Surg Pathol Clin. 2016 Jun;9(2):289-99.

 

This article reviews the main tissue testing modalities for Lynch Syndrome in the pathology laboratory, such as immunohistochemistry and PCR based analyses, and discusses their routine application, interpretation pitfalls, and troubleshooting of common technical performance issues. ...

Last Updated: 31 May 2016

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Update on Lynch syndrome genomics.
 

Author(s): Päivi Peltomäki

Journal: Fam. Cancer. 2016 Jul;15(3):385-93.

 

Four main DNA mismatch repair (MMR) genes have been identified, MLH1, MSH2, MSH6, and PMS2, which when mutated cause susceptibility to Lynch syndrome (LS). LS is one of the most prevalent hereditary cancer syndromes in man and accounts for 1-3 % of unselected colorectal carcinomas ...

Last Updated: 9 Jun 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Multi-Organ Screening Recommendations in Patients With Lynch Syndrome
 

Status: Recruiting

Condition Summary: Lynch Syndrome

 

Last Updated: 10 Mar 2017

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Last Updated: 9 Oct 2017

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Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer
 

Status: Not yet recruiting

Condition Summary: Lynch Syndrome

 

Last Updated: 9 Oct 2017

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