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Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer (HNPCC).
Minerva Gastroenterol Dietol. 2010 Mar; 56(1):45-53.MG

Abstract

Lynch Syndrome (LS), also known as Hereditary Non-polyposis Colorectal Cancer (HNPCC), is the most common hereditary colorectal cancer syndrome and is estimated to account for 3-5% of CRC cases. LS is caused by mutations in DNA mismatch repair (MMR) genes which are inherited in an autosomal dominant pattern and are associated with accelerated development of cancers. Families affected with Lynch Syndrome typically contain multiple individuals affected with CRC and/or endometrial cancer, with many of the cases diagnosed at younger ages. Lifetime risk for colorectal and endometrial cancers approaches 70-80% and 40-60% respectively, in the absence of medical intervention. Individuals with Lynch Syndrome also have an increased risk for developing other cancers and variations in clinical presentation can make diagnosis difficult. Clinical genetic testing has identified mutations in the MMR genes MLH1, MSH2, MSH6, and PMS2 in many families with Lynch Syndrome. Colonoscopy at frequent intervals has been shown to be effective in reducing morbidity and mortality from Lynch-associated colorectal cancer.

Authors+Show Affiliations

Division of Gastroenterology, Brigham and Women's Hospital, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA. estoffel@partners.org

Pub Type(s)

Journal Article

Language

eng

PubMed ID

20190724

Citation

Stoffel, E M.. "Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer (HNPCC)." Minerva Gastroenterologica E Dietologica, vol. 56, no. 1, 2010, pp. 45-53.
Stoffel EM. Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer (HNPCC). Minerva Gastroenterol Dietol. 2010;56(1):45-53.
Stoffel, E. M. (2010). Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer (HNPCC). Minerva Gastroenterologica E Dietologica, 56(1), 45-53.
Stoffel EM. Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer (HNPCC). Minerva Gastroenterol Dietol. 2010;56(1):45-53. PubMed PMID: 20190724.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lynch Syndrome/Hereditary Non-polyposis Colorectal Cancer (HNPCC). A1 - Stoffel,E M, PY - 2010/3/2/entrez PY - 2010/3/2/pubmed PY - 2010/7/21/medline SP - 45 EP - 53 JF - Minerva gastroenterologica e dietologica JO - Minerva Gastroenterol Dietol VL - 56 IS - 1 N2 - Lynch Syndrome (LS), also known as Hereditary Non-polyposis Colorectal Cancer (HNPCC), is the most common hereditary colorectal cancer syndrome and is estimated to account for 3-5% of CRC cases. LS is caused by mutations in DNA mismatch repair (MMR) genes which are inherited in an autosomal dominant pattern and are associated with accelerated development of cancers. Families affected with Lynch Syndrome typically contain multiple individuals affected with CRC and/or endometrial cancer, with many of the cases diagnosed at younger ages. Lifetime risk for colorectal and endometrial cancers approaches 70-80% and 40-60% respectively, in the absence of medical intervention. Individuals with Lynch Syndrome also have an increased risk for developing other cancers and variations in clinical presentation can make diagnosis difficult. Clinical genetic testing has identified mutations in the MMR genes MLH1, MSH2, MSH6, and PMS2 in many families with Lynch Syndrome. Colonoscopy at frequent intervals has been shown to be effective in reducing morbidity and mortality from Lynch-associated colorectal cancer. SN - 1121-421X UR - https://www.unboundmedicine.com/medline/citation/20190724/Lynch_Syndrome/Hereditary_Non_polyposis_Colorectal_Cancer__HNPCC__ L2 - http://www.minervamedica.it/index2.t?show=R08Y2010N01A0045 DB - PRIME DP - Unbound Medicine ER -
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