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Clin Colon Rectal Surg 2012; 25(02): 063-066
DOI: 10.1055/s-0032-1313776
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

History and Pathogenesis of Lynch Syndrome

Brian J. Bansidhar
1   Department of Colon and Rectal Surgery, Saint Vincent Health Center, Erie, Pennsylvania.
,
Jennifer Silinsky
2   Department of Colon and Rectal Surgery, Ochsner Clinic Foundation, New Orleans, Louisiana.
› Author Affiliations
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Publication History

Publication Date:
30 May 2012 (online)

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Abstract

Lynch syndrome is the familial clustering of colorectal and endometrial cancers. This syndrome is passed in an autosomal dominant fashion within families with defective mismatch repair as the genetic basis for cancer development in these patients. There remains a group of patients who fit clinical diagnostic criteria for an autosomal dominant familial cancer syndrome, which is phenotypically similar to Lynch syndrome, but for which no mismatch repair mutation is identified. Identification of alternate genetic mutations such as EPCAM and CHEK2 may explain the cancer risk in a small subset of these patients, but continuing work into the genetic basis of colorectal familial cancer syndromes is needed.

Keywords

Lynch syndrome - hereditary nonpolyposis colorectal cancer - mismatch repair - microsatellite instability - CHEK2 - EPCAM
 

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