Loss of tumor suppressor gene function in human cancer: an overview

LH Wang, CF Wu, N Rajasekaran… - Cellular Physiology and …, 2019 - karger.com
Cancer is a disease caused by the accumulation of genetic and epigenetic changes in two
types of genes: tumor suppressor genes (TSGs) and proto-oncogenes. Extensive research …

Milestones of Lynch syndrome: 1895–2015

HT Lynch, CL Snyder, TG Shaw, CD Heinen… - Nature Reviews …, 2015 - nature.com
Lynch syndrome, which is now recognized as the most common hereditary colorectal cancer
condition, is characterized by the predisposition to a spectrum of cancers, primarily …

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients

H Hampel, W Frankel, J Panescu, J Lockman… - Cancer research, 2006 - AACR
Endometrial cancer is the most common cancer in women with Lynch syndrome. The
identification of individuals with Lynch syndrome is desirable because they can benefit from …

Highly penetrant hereditary cancer syndromes

R Nagy, K Sweet, C Eng - Oncogene, 2004 - nature.com
The past two decades have brought many important advances in our understanding of the
hereditary susceptibility to cancer. Approximately 5–10% of all cancers are inherited, the …

Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal …

V Piñol, A Castells, M Andreu, S Castellví-Bel… - Jama, 2005 - jamanetwork.com
ContextThe selection of individuals for hereditary nonpolyposis colorectal cancer (HNPCC)
genetic testing is challenging. Recently, the National Cancer Institute outlined a new set of …

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

YMC Hendriks, A Wagner, H Morreau, F Menko… - Gastroenterology, 2004 - Elsevier
Background & Aims: Hereditary nonpolyposis colorectal carcinoma (HNPCC) is caused by a
mutated mismatch repair (MMR) gene. The aim of our study was to determine the cumulative …

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

AOH Nygren, N Ameziane, HMB Duarte… - Nucleic acids …, 2005 - academic.oup.com
Copy number changes and CpG methylation of various genes are hallmarks of tumor
development but are not yet widely used in diagnostic settings. The recently developed …

An α‐E‐catenin (CTNNA1) mutation in hereditary diffuse gastric cancer

IJ Majewski, I Kluijt, A Cats, TS Scerri… - The Journal of …, 2013 - Wiley Online Library
Diffuse gastric cancers typically present as late‐stage tumours and, as a result, the 5 year
survival rate is poor. Some gastric cancers are hereditary and these tend to be of the diffuse …

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

E Domingo, P Laiho, M Ollikainen, M Pinto… - Journal of medical …, 2004 - jmg.bmj.com
Background: According to the international criteria for hereditary non-polyposis colorectal
cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of …

Large Genomic Deletions and Duplications in the BRCA1 Gene Identified by a Novel Quantitative Method

FBL Hogervorst, PM Nederlof, JJP Gille, CJ McElgunn… - Cancer research, 2003 - AACR
We applied a novel method to detect single or multiple exon deletions and amplifications in
the BRCA1 gene. The test, called multiplex ligation-dependent probe amplification (MLPA) …