Lynch syndrome

Common Name(s)

Lynch syndrome, Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

Lynch syndrome (LS) is a result of a defective mismatch repair gene. The defect subjects family members to a high lifetime risk of contracting aggressive cancers, which often present at a younger than avg age, of 82% colorectal, 60% endometrial, 20% urothelial tract, 15% gastric tract, 13% ovarian & a higher than avg risk for cancers of the hepatobiliary tract, pancreas, prostate, skin and brain. Genetic testing and regular cancer screenings are essential for these families to insure survival.

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

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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Lynch syndrome from a surgeon perspective: retrospective study of clinical impact of mismatch repair protein expression analysis in colorectal cancer patients less than 50 years old.
 

Author(s): Gian Luca Baiocchi, Nazario Portolani, William Vermi, Carla Baronchelli, Federico Gheza, Claudio Zogno, Alessandro Scaglia, Eleonora Marchina, Guido A M Tiberio, Stefano Maria Giulini

Journal:

 

In clinical practice, unexpected diagnosis of colorectal cancer in young patients requires prompt surgery, thus genetic testing for Lynch Syndrome is frequently missed, and clinical management may result incorrect.

Last Updated: 19 Mar 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 29 free, full-text review articles on human participants. First 3 results:

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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Lynch syndrome presenting as endometrial cancer.
 

Author(s): Laura J Tafe, Eleanor R Riggs, Gregory J Tsongalis

Journal: Clin. Chem.. 2014 Jan;60(1):111-21.

 

Lynch syndrome (LS) is the most common form of the hereditary colon cancer syndromes. Because of its high prevalence, a nationwide campaign has begun to screen all colorectal cancers for the genetic abnormalities associated with LS.

Last Updated: 31 Dec 2013

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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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