Version 2.78

Description

Lynch syndrome (HNPCC or Hereditary nonpolyposis colorectal cancer ) is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. The increased risk for these cancers is due to inherited mutations that impair DNA mismatch repair.

HNPCC defects in DNA mismatch repair lead to microsatellite instability, also known as MSI-H, which is a hallmark of HNPCC. MSI is identifiable in cancer specimens in the pathology laboratory. Most cases result in changes in the lengths of dinucleotide repeats of the nucleobases cytosine and adenine (sequence: CACACACACA...).

HNPCC is known to be associated with mutations in genes involved in the DNA mismatch repair pathway:
MSH2
MLH1
MSH6
PMS2
PMS1
TGFBR2
MLH3 Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Basic Part Properties

Part Display Name
HNPCC genes
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-16
Construct for LOINC Short Name
HNPCC genes

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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) HNPCC 基因
Synonyms: HNPCC;遗传性非多发性息肉型结直肠癌;遗传性非多发性息肉型结直肠癌（Hereditary Nonpolyposis Colorectal Cancer，HNPCC）;遗传性非多发性息肉性结直肠癌;遗传性非息肉性大肠癌;遗传性非息肉病型结直肠癌;遗传性非息肉病性大肠癌;遗传性非息肉病性结直肠癌;遗传性非瘜肉症大肠直肠癌
et-EE Estonian (Estonia) HNPCC geen
es-ES Spanish (Spain) Gen HNPCC
it-IT Italian (Italy) HNPCC, gene
Synonyms: Gene HNPCC
tr-TR Turkish (Turkey) HNPCC geni
ru-RU Russian (Russian Federation) HNPCC ген
nl-NL Dutch (Netherlands) HNPCC-gen
Synonyms: HNPCC gen