EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome

GE Palomaki, MR McClain, S Melillo, HL Hampel… - Genetics in …, 2009 - nature.com
An original evidence review examined screening and diagnosis of hereditary nonpolyposis
colorectal cancer (HNPCC) and the subsequent outcomes in a population of newly …

Tumour markers in colorectal cancer: European Group on Tumour Markers (EGTM) guidelines for clinical use

MJ Duffy, A van Dalen, C Haglund, L Hansson… - European journal of …, 2007 - Elsevier
The aim of this article is to present updated guidelines for the use of serum, tissue and faecal
markers in colorectal cancer (CRC). Lack of specificity and sensitivity preclude the use of all …

Prevalence and penetrance of major genes and polygenes for colorectal cancer

AK Win, MA Jenkins, JG Dowty, AC Antoniou… - … Biomarkers & Prevention, 2017 - AACR
Background: Although high-risk mutations in identified major susceptibility genes (DNA
mismatch repair genes and MUTYH) account for some familial aggregation of colorectal …

Cancer Risks for PMS2-Associated Lynch Syndrome

SW Ten Broeke, HM van der Klift, CMJ Tops… - Journal of Clinical …, 2018 - ascopubs.org
Purpose Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes
MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial …

Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome …

J Shia - The Journal of molecular diagnostics, 2008 - Elsevier
The utility of immunohistochemical detection of DNA mismatch repair (MMR) protein in
screening colorectal tumors for hereditary nonpolyposis colorectal cancer (HNPCC) …

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

L Senter, M Clendenning, K Sotamaa, H Hampel… - Gastroenterology, 2008 - Elsevier
Background & Aims: Although the clinical phenotype of Lynch syndrome (also known as
hereditary nonpolyposis colorectal cancer) has been well described, little is known about …

Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers

L Baglietto, NM Lindor, JG Dowty… - Journal of the …, 2010 - academic.oup.com
Background Germline mutations in MSH6 account for 10%–20% of Lynch syndrome
colorectal cancers caused by hereditary DNA mismatch repair gene mutations. Because …

[HTML][HTML] Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study

AK Win, JP Young, NM Lindor, KM Tucker… - Journal of clinical …, 2012 - ncbi.nlm.nih.gov
Colorectal and Other Cancer Risks for Carriers and Noncarriers From Families With a DNA
Mismatch Repair Gene Mutation: A Prospective Cohort Study - PMC Back to Top Skip to main …

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)

HFA Vasen, G Möslein, A Alonso, I Bernstein… - Journal of medical …, 2007 - jmg.bmj.com
Lynch syndrome (hereditary non-polyposis colorectal cancer) is characterised by the
development of colorectal cancer, endometrial cancer and various other cancers, and is …

Cancer Risks for MLH1 and MSH2 Mutation Carriers

JG Dowty, AK Win, DD Buchanan, NM Lindor… - Human …, 2013 - Wiley Online Library
ABSTRACT We studied 17,576 members of 166 MLH 1 and 224 MSH 2 mutation‐carrying
families from the C olon C ancer F amily R egistry. Average cumulative risks of colorectal …