Role of DNA mismatch repair defects in the pathogenesis of human cancer
P Peltomaki - Journal of clinical oncology, 2003 - ascopubs.org
The DNA mismatch repair (MMR) system is necessary for the maintenance of genomic
stability. In a broad sense, all main functions of the MMR system, including the correction of …
stability. In a broad sense, all main functions of the MMR system, including the correction of …
Genetic susceptibility to non-polyposis colorectal cancer
HT Lynch, A De la Chapelle - Journal of medical genetics, 1999 - jmg.bmj.com
Familial colorectal cancer (CRC) is a major public health problem by virtue of its relatively
high frequency. Some 15-20% of all CRCs are familial. Among these, familial adenomatous …
high frequency. Some 15-20% of all CRCs are familial. Among these, familial adenomatous …
Cancer Risks for MLH1 and MSH2 Mutation Carriers
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 …
families from the C olon C ancer F amily R egistry. Average cumulative risks of colorectal …
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 …
genetic testing is challenging. Recently, the National Cancer Institute outlined a new set of …
Update on Lynch syndrome genomics
P Peltomäki - Familial cancer, 2016 - Springer
Four main DNA mismatch repair (MMR) genes have been identified, MLH1, MSH2, MSH6,
and PMS2, which when mutated cause susceptibility to Lynch syndrome (LS). LS is one of …
and PMS2, which when mutated cause susceptibility to Lynch syndrome (LS). LS is one of …
Colon cancer screening
RW Burt - Gastroenterology, 2000 - Elsevier
The past decade has seen extraordinary advances in colon cancer screening. Average-risk
screening has now been validated, and national public and professional educational efforts …
screening has now been validated, and national public and professional educational efforts …
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 …
mutated mismatch repair (MMR) gene. The aim of our study was to determine the cumulative …
Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.
TS Frank, SA Manley, OI Olopade… - Journal of Clinical …, 1998 - ascopubs.org
PURPOSE Previous studies of mutations in BRCA1 or BRCA2 have used detection methods
that may underestimate the actual frequency of mutations and have analyzed women using …
that may underestimate the actual frequency of mutations and have analyzed women using …
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 …
women in the United States and is estimated to have affected 148,000 people in 2002. The …
Inherited colorectal cancer syndromes
F Kastrinos, S Syngal - The Cancer Journal, 2011 - journals.lww.com
Colorectal cancer is the most common gastrointestinal malignancy and the second leading
cause of cancer death in both men and women in the United States. Most colorectal cancer …
cause of cancer death in both men and women in the United States. Most colorectal cancer …