Screening for the Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)

Hampel, Heather; L. Frankel, Wendy; W. Martin, Edward; Arnold, Mark; S. Khanduja, K.; Kuebler, Philip; Nakagawa, Hidewaki; Sotamaa, Kaisa; W. Prior, Thomas; A. Westman, Judith; Panescu, Jenny; Fix, Dan; Lockman, Janet; Comeras, Ilene; de la Chapelle, Albert

doi:10.1056/nejmoa043146

Public

Screening for the Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)

Published in New England Journal of Medicine • May 4, 2005

Authors:

Heather Hampel

Wendy L. Frankel

Edward W. Martin

Abstract

BACKGROUND: Germ-line mutations in the mismatch-repair genes MLH1, MSH2, MSH6, and PMS2 lead to the development of the Lynch syndrome (hereditary nonpolyposis colorectal cancer), conferring a strong susceptibility to cancer. We assessed the frequency of such mutations in patients with colorectal can...

Subject

Lynch syndrome

PMS2

Microsatellite instability

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