Lynch syndrome

Common Name(s)

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

Lynch syndrome is a genetic condition that causes an increased lifetime risk for several different types of cancer. For individuals with Lynch syndrome, their lifetime cancer risks are 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 of the ovaries). Affected individuals also have a higher risk than the general population for cancer of the upper urinary tract, kidneys, small intestine, skin, and brain.

Lynch syndrome is caused by a mutation (change) within one of several genes responsible for fixing genetic errors. During cell division, errors can occur within DNA while it is being copied. The MLH1, MSH2, MSH6, PMS2, and EPCAM genes are responsible for finding and fixing these errors within the copied DNA. If a person is born with a mutation in one of these genes, there is a greater chance for DNA errors to accumulate during the copying process, leading to an increased risk for several forms of cancer.

Mutations that cause Lynch syndrome can occur spontaneously (de novo) in an individual, but are often inherited from a parent in an autosomal dominant manner (a mutation in one copy of the gene causes the condition). Any individual with Lynch syndrome will have a 50% chance of passing on the disease causing mutation to each of their children. Lynch syndrome is often diagnosed based on an individual’s cancer and family history. However, genetic testing may be necessary 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. Treatment options for Lynch syndrome are dependent upon the type of cancer. Affected individuals should be aware of their risks and receive routine cancer screenings to increase their likelihood of catching the cancer in the early stages.

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: 4 May 2014

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General Support Organizations

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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: 4 May 2014

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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 230 free, full-text research articles on human participants. First 3 results:

Lynch syndrome screening should be considered for all patients with newly diagnosed endometrial cancer.
 

Author(s): Anne M Mills, Sofia Liou, James M Ford, Jonathan S Berek, Reetesh K Pai, Teri A Longacre

Journal: Am. J. Surg. Pathol.. 2014 Nov;38(11):1501-9.

 

Lynch syndrome (LS) is an autosomal dominant inherited disorder caused by germline mutations in DNA mismatch repair (MMR) genes. Mutation carriers are at substantially increased risk of developing cancers of the colorectum and endometrium, among others. Given recent recommendations ...

Last Updated: 11 Oct 2014

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Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers.
 

Author(s): Daniel J Park, Kayoko Tao, Florence Le Calvez-Kelm, Tu Nguyen-Dumont, Nivonirina Robinot, Fleur Hammet, Fabrice Odefrey, Helen Tsimiklis, Zhi L Teo, Louise B Thingholm, Erin L Young, Catherine Voegele, Andrew Lonie, Bernard J Pope, Terrell C Roane, Russell Bell, Hao Hu, Shankaracharya, Chad D Huff, Jonathan Ellis, Jun Li, Igor V Makunin, Esther M John, Irene L Andrulis, Mary B Terry, Mary Daly, Saundra S Buys, Carrie Snyder, Henry T Lynch, Peter Devilee, Graham G Giles, John L Hopper, Bing-Jian Feng, Fabienne Lesueur, Sean V Tavtigian, Melissa C Southey, David E Goldgar

Journal: Cancer Discov. 2014 Jul;4(7):804-15.

 

Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome-sequencing study identified three likely pathogenic mutations in RINT1 (NM_021930.4) not present in public sequencing databases: RINT1 c.343C>T (p.Q115X), ...

Last Updated: 23 Jul 2014

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Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.
 

Author(s): Yanqun Liu, Min Hoe Chew, Xue Wei Goh, Soo Yong Tan, Carol Tien Tau Loi, Yuen Ming Tan, Hai Yang Law, Poh Koon Koh, Choong Leong Tang

Journal:

 

Germline defects of mismatch repair (MMR) genes underlie Lynch Syndrome (LS). We aimed to gain comprehensive genetic and epigenetic profiles of LS families in Singapore, which will facilitate efficient molecular diagnosis of LS in Singapore and the region.

Last Updated: 8 Apr 2014

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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 33 free, full-text review articles on human participants. First 3 results:

Role of the clinical pathology laboratory in the evaluation of endometrial carcinomas for Lynch syndrome.
 

Author(s): Bojana Djordjevic, Russell R Broaddus

Journal: Semin Diagn Pathol. 2014 May;31(3):195-204.

 

Molecular diagnostic testing of endometrial carcinomas in the pathology laboratory has recently emerged as a key component of the clinical evaluation of Lynch syndrome in many centers. Testing modalities involve immunohistochemical and PCR-based analyses. This article outlines the ...

Last Updated: 21 Jun 2014

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Cervical neuroendocrine tumor in a young female with Lynch Syndrome.
 

Author(s): Ibraheem Yousef, Fadi Siyam, Lester Layfield, Carl Freter, James R Sowers

Journal: Neuro Endocrinol. Lett.. 2014 ;35(2):89-94.

 

Neuroendocrine tumors rarely occur in the cervix or other components of the reproductive system. These tumors have been associated with microsatellite instability, are very aggressive and often associated with poor outcome. Lynch syndrome is an inherited cancer syndrome that has also ...

Last Updated: 7 Jul 2014

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Determining eligibility for and preparation to kidney transplantation of a patient with Lynch syndrome--a case report and literature review.
 

Author(s): Jolanta Gozdowska, Monika Bieniasz, Michał Wszoła, Rafał Kieszek, Piotr Domagała, Jakub Drozdowski, Aleksandra Tomaszek, Artur Kwiatkowski, Andrzej Chmura, Magdalena Durlik

Journal:

 

Lynch syndrome (HNPCC, hereditary non-polyposis colorectal cancer) is a syndrome of predisposition to cancer inherited in an autosomal dominant fashion. A person with Lynch syndrome has a considerably increased risk of colorectal cancer in comparison with the general population.

Last Updated: 11 Mar 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Women Who Are At Risk Or May Have Lynch Syndrome
 

Status: Recruiting

Condition Summary: Hereditary Nonpolyposis Colorectal Cancer; Lynch Syndrome

 

Last Updated: 13 Nov 2014

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Molecular Screening for Lynch Syndrome in Denmark
 

Status: Recruiting

Condition Summary: Colorectal Cancer; Lynch Syndrome; HNPCC

 

Last Updated: 3 Dec 2014

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I-Scan For Colon Polyp Detection In HNPCC
 

Status: Recruiting

Condition Summary: Hereditary Non-polyposis Colon Carcinoma; HNPCC; Lynch Syndrome

 

Last Updated: 29 Mar 2013

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