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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Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Medical Devices; Hematology and Pathology Devices; Classification of Lynch Syndrome Test Systems. Final order.
 

Author(s):

Journal: Fed Regist. 2018 Feb;83(39):8355-7.

 

The Food and Drug Administration (FDA or we) is classifying Lynch syndrome test systems into class II (special controls). The special controls that apply to the device type are identified in this order and will be part of the codified language for the Lynch syndrome test systems' ...

Last Updated: 31 Dec 1969

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Converging endometrial and ovarian tumorigenesis in Lynch syndrome: Shared origin of synchronous carcinomas.
 

Author(s): Anni Niskakoski, Annukka Pasanen, Noora Porkka, Samuli Eldfors, Heini Lassus, Laura Renkonen-Sinisalo, Sippy Kaur, Jukka-Pekka Mecklin, Ralf Bützow, Päivi Peltomäki

Journal: Gynecol. Oncol.. 2018 07;150(1):92-98.

 

The diagnosis of carcinoma in both the uterus and the ovary simultaneously is not uncommon and raises the question of synchronous primaries vs. metastatic disease. Targeted sequencing of sporadic synchronous endometrial and ovarian carcinomas has shown that such tumors are clonally ...

Last Updated: 31 Dec 1969

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Tumor development in Japanese patients with Lynch syndrome.
 

Author(s): Chiaki Saita, Tatsuro Yamaguchi, Shin-Ichiro Horiguchi, Rin Yamada, Misato Takao, Takeru Iijima, Rika Wakaume, Tomoyuki Aruga, Taku Tabata, Koichi Koizumi

Journal:

 

Lynch syndrome (LS) patients have a high risk of developing various tumors. This study aimed to clarify the characteristics of tumors developing in LS patients.

Last Updated: 31 Dec 1969

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

A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome.
 

Author(s): Helen Coelho, Tracey Jones-Hughes, Tristan Snowsill, Simon Briscoe, Nicola Huxley, Ian M Frayling, Chris Hyde

Journal:

 

A systematic review was conducted to assess the diagnostic test accuracy of polymerase chain reaction (PCR)-based microsatellite instability (MSI) testing for identifying Lynch syndrome in patients with colorectal cancer (CRC). Unlike previous reviews, this was based on assessing ...

Last Updated: 31 Dec 1969

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Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation.
 

Author(s): Tristan Snowsill, Helen Coelho, Nicola Huxley, Tracey Jones-Hughes, Simon Briscoe, Ian M Frayling, Chris Hyde

Journal: Health Technol Assess. 2017 Sep;21(51):1-238.

 

Inherited mutations in deoxyribonucleic acid (DNA) mismatch repair (MMR) genes lead to an increased risk of colorectal cancer (CRC), gynaecological cancers and other cancers, known as Lynch syndrome (LS). Risk-reducing interventions can be offered to individuals with known LS-causing ...

Last Updated: 31 Dec 1969

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Risk of metachronous colorectal cancer following colectomy in Lynch syndrome: a systematic review and meta-analysis.
 

Author(s): C C Anele, S O Adegbola, A Askari, A Rajendran, S K Clark, A Latchford, O D Faiz

Journal: Colorectal Dis. 2017 Jun;19(6):528-536.

 

Lynch syndrome (LS) accounts for 2-4% of all colorectal cancer (CRC) cases, and is associated with an increased risk of developing metachronous colorectal cancer (mCRC). The role of extended colectomy in LS CRC is controversial. There are limited studies comparing the risk of mCRC ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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Multi-Organ Screening Recommendations in Patients With Lynch Syndrome
 

Status: Recruiting

Condition Summary: Lynch Syndrome

 

Last Updated: 24 Apr 2018

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