Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002)

SR Cairns, JH Scholefield, RJ Steele, MG Dunlop… - Gut, 2010 - gut.bmj.com
The British Society of Gastroenterology (BSG) and the Association of Coloproctology for
Great Britain and Ireland (ACPGBI) commissioned this update of the 2002 guidance. The …

Attenuated familial adenomatous polyposis (AFAP): a review of the literature

AL Knudsen, ML Bisgaard, S Bülow - Familial cancer, 2003 - Springer
Over the last decade, a subset of familial adenomatous polyposis (FAP) patients with a
milder course of disease termed attenuated familial adenomatous polyposis (AFAP) has …

The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the β-catenin signaling cascade

C Albuquerque, C Breukel… - Human molecular …, 2002 - academic.oup.com
According to the classical interpretation of Knudson's 'two-hit'hypothesis for tumorigenesis,
the two 'hits' are independent mutation events, the end result of which is loss of a tumor …

Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas

S Grover, F Kastrinos, EW Steyerberg, EF Cook… - Jama, 2012 - jamanetwork.com
Context Patients with multiple colorectal adenomas may carry germline mutations in the
APC or MUTYH genes. Objectives To determine the prevalence of pathogenic APC and …

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

AS Kondrashov - Human mutation, 2003 - Wiley Online Library
I estimate per nucleotide rates of spontaneous mutations of different kinds in humans directly
from the data on per locus mutation rates and on sequences of de novo nonsense …

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families

W Friedl, R Caspari, M Sengteller, S Uhlhaas… - Gut, 2001 - gut.bmj.com
BACKGROUND AND AIMS In familial adenomatous polyposis (FAP), correlations between
site of mutation in the adenomatous polyposis coli (APC) gene and severity of colonic …

Genetic testing for high-risk colon cancer patients

WM Grady - Gastroenterology, 2003 - Elsevier
Colorectal cancer is the third leading cause of cancer-related deaths in both men and
women in the United States and is estimated to have affected 148,000 people in 2002. The …

Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations

J Björk, H Åkerbrant, L Iselius, A Bergman, Y Engwall… - Gastroenterology, 2001 - Elsevier
Background & Aims: Patients with familial adenomatous polyposis (FAP) have a high
prevalence of duodenal adenomas, and the region of the ampulla of Vater is the predilection …

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype

H Meijers-Heijboer, M Wasielewski, A Wagner… - The American Journal of …, 2003 - cell.com
Because of genetic heterogeneity, the identification of breast cancer–susceptibility genes
has proven to be exceedingly difficult. Here, we define a new subset of families with breast …

Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers …

MG Dunlop - Gut, 2002 - gut.bmj.com
People with a greatly increased risk of gastrointestinal malignancy on the basis of
inheritance of a single gene disorder can be identified on the basis of family history and …