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. 2012 Jun;25(2):103-10.
doi: 10.1055/s-0032-1313781.

Extracolonic manifestations of lynch syndrome

Brian J Bansidhar  1
Affiliations

Extracolonic manifestations of lynch syndrome

Brian J Bansidhar. Clin Colon Rectal Surg. 2012 Jun.

Abstract

Lynch syndrome has classically been defined by several predominant malignancies. Initial clinical criteria for diagnosis of Lynch syndrome would miss 40% of affected individuals. As time has passed, our understanding of Lynch syndrome has evolved and will continue to do so. The number of cancer types that are included in the Lynch phenotype is growing. This has allowed clinicians to redefine Lynch syndrome, at risk populations, screening needs, and diagnostic criteria. Inclusion of extracolonic malignancies and alternative genetic pathways gives new insight into the true prevalence and penetrance of Lynch syndrome.

Keywords: Lynch syndrome; atypical phenotype; extracolonic malignancies; mismatch repair genes.

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References

    1. Ponz de Leon M, Bertario L, Genuardi M. et al.Report from the Italian Association for the Study of Hereditary Colorectal Tumors Consensus Group. Identification and classification of hereditary nonpolyposis colorectal cancer (Lynch syndrome): adapting old concepts to recent advancements. Report from the Italian Association for the study of Hereditary Colorectal Tumors Consensus Group. Dis Colon Rectum. 2007;50(12):2126–2134. - PubMed
    1. Lin K M, Shashidharan M, Ternent C A. et al.Colorectal and extracolonic cancer variations in MLH1/MSH2 hereditary nonpolyposis colorectal cancer kindreds and the general population. Dis Colon Rectum. 1998;41(4):428–433. - PubMed
    1. Vasen H FA, Offerhaus G J, den Hartog Jager F C. et al.The tumor spectrum in HNPCC: a study of 24 kindred in the Netherlands. Int J Cancer. 1990;46:31–34. - PubMed
    1. da Silva F C, de Oliveira L P, Santos E M. et al.Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry. Fam Cancer. 2010;9(4):563–570. - PubMed
    1. Watson P, Lynch H T. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer. 1993;71(3):677–685. - PubMed