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Genetic testing in gastroenterology: Lynch syndrome.
Best Pract Res Clin Gastroenterol. 2009; 23(2):185-96.BP

Abstract

Lynch syndrome/Hereditary non-polyposis colorectal cancer is caused by inherited germline mutations in mismatch repair (MMR) genes, and accounts for 2-5% of colorectal cancers (CRC) . It is characterized by young onset CRC and an increased risk for gynaecologic, urinary tract and gastrointestinal cancers. Family history evaluation is crucial in the early identification of individuals at risk for Lynch syndrome. Individuals whose family history includes multiple relatives with cancer, two or more primary cancers, or component tumours diagnosed at a young age, should undergo genetic evaluation for Lynch syndrome. Guidelines recommend initial evaluation of the tumour with immunohistochemistry or microsatellite instability testing followed by germline testing for mutations in MMR genes in those with abnormal results. Genetic test results can guide screening recommendations for patients and their families. However, results are not always conclusive and in such cases recommendations for cancer screening should be individualized on the basis of personal and family history.

Authors+Show Affiliations

Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA.No affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

19414145

Citation

Grover, Shilpa, and Sapna Syngal. "Genetic Testing in Gastroenterology: Lynch Syndrome." Best Practice & Research. Clinical Gastroenterology, vol. 23, no. 2, 2009, pp. 185-96.
Grover S, Syngal S. Genetic testing in gastroenterology: Lynch syndrome. Best Pract Res Clin Gastroenterol. 2009;23(2):185-96.
Grover, S., & Syngal, S. (2009). Genetic testing in gastroenterology: Lynch syndrome. Best Practice & Research. Clinical Gastroenterology, 23(2), 185-96. https://doi.org/10.1016/j.bpg.2009.02.006
Grover S, Syngal S. Genetic Testing in Gastroenterology: Lynch Syndrome. Best Pract Res Clin Gastroenterol. 2009;23(2):185-96. PubMed PMID: 19414145.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic testing in gastroenterology: Lynch syndrome. AU - Grover,Shilpa, AU - Syngal,Sapna, PY - 2009/5/6/entrez PY - 2009/5/6/pubmed PY - 2009/7/17/medline SP - 185 EP - 96 JF - Best practice & research. Clinical gastroenterology JO - Best Pract Res Clin Gastroenterol VL - 23 IS - 2 N2 - Lynch syndrome/Hereditary non-polyposis colorectal cancer is caused by inherited germline mutations in mismatch repair (MMR) genes, and accounts for 2-5% of colorectal cancers (CRC) . It is characterized by young onset CRC and an increased risk for gynaecologic, urinary tract and gastrointestinal cancers. Family history evaluation is crucial in the early identification of individuals at risk for Lynch syndrome. Individuals whose family history includes multiple relatives with cancer, two or more primary cancers, or component tumours diagnosed at a young age, should undergo genetic evaluation for Lynch syndrome. Guidelines recommend initial evaluation of the tumour with immunohistochemistry or microsatellite instability testing followed by germline testing for mutations in MMR genes in those with abnormal results. Genetic test results can guide screening recommendations for patients and their families. However, results are not always conclusive and in such cases recommendations for cancer screening should be individualized on the basis of personal and family history. SN - 1532-1916 UR - https://www.unboundmedicine.com/medline/citation/19414145/Genetic_testing_in_gastroenterology:_Lynch_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1521-6918(09)00029-8 DB - PRIME DP - Unbound Medicine ER -