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Lynch syndrome (hereditary nonpolyposis colorectal cancer): Screening and management

Peter A L Bonis, MD
Dennis J Ahnen, MD
Lisen Axell, MS, CGC
Section Editors
J Thomas Lamont, MD
Barbara Goff, MD
Deputy Editor
Shilpa Grover, MD, MPH


Lynch syndrome is an autosomal dominant disorder characterized by an increased risk of colorectal cancer (CRC) and endometrial cancer as well as a risk of several other malignancies [1]. This topic review will discuss the recommendations for screening and surveillance of individuals with Lynch syndrome and their families. Guidelines for cancer screening in patients diagnosed with Lynch syndrome have been proposed by several groups and are largely based on expert opinion and limited observational data [2-17]. Our recommendations are largely consistent with the United States Multi-Society Task Force on Colorectal Cancer and the American College of Gastroenterology [4,17].

The clinical manifestations and diagnosis of Lynch syndrome, the management of patients and families with other hereditary colon cancer syndromes, and screening strategies in patients with a family history of CRC or polyps who are not known to have one of the above conditions are discussed elsewhere. (See "Lynch syndrome (hereditary nonpolyposis colorectal cancer): Clinical manifestations and diagnosis" and "Familial adenomatous polyposis: Screening and management of patients and families" and "Juvenile polyposis syndrome" and "Screening for colorectal cancer in patients with a family history of colorectal cancer".)


Hereditary nonpolyposis colorectal cancer (HNPCC) refers to patients and/or families who fulfill Amsterdam clinical criteria for Lynch syndrome (table 1). (See "Lynch syndrome (hereditary nonpolyposis colorectal cancer): Clinical manifestations and diagnosis", section on 'Amsterdam criteria'.)

Lynch syndrome refers to patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, and PMS2) or the EPCAM gene.


Individuals with Lynch syndrome have an increased risk of colorectal and endometrial cancer [1]. Other sites of cancer include the ovary, stomach, small bowel, hepatobiliary system, renal pelvis, ureter, brain, and skin. There may also be an increased risk of breast, prostate, and pancreatic cancer in individuals with Lynch syndrome. Among individuals with Lynch syndrome, the lifetime cancer risk and therefore some screening recommendations vary by genotype (table 2). (See "Lynch syndrome (hereditary nonpolyposis colorectal cancer): Clinical manifestations and diagnosis", section on 'Genotype phenotype correlation'.)


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Literature review current through: Sep 2016. | This topic last updated: May 12, 2016.
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