Deficient DNA mismatch repair: a common etiologic factor for colon cancer
P Peltomäki - Human molecular genetics, 2001 - academic.oup.com
Hereditary non-polyposis colon cancer (HNPCC), the most common form of hereditary colon
cancer, is a syndrome of deficient DNA mismatch repair (MMR). Five, possibly six, human …
cancer, is a syndrome of deficient DNA mismatch repair (MMR). Five, possibly six, human …
Mutations associated with HNPCC predisposition--Update of ICG-HNPCC/INSiGHT mutation database
P Peltomäki, H Vasen - Disease markers, 2004 - content.iospress.com
Abstract In 1994, the International Collaborative Group on Hereditary Nonpolyposis
Colorectal Cancer (ICG-HNPCC) established an international database of mutations …
Colorectal Cancer (ICG-HNPCC) established an international database of mutations …
Lynch syndrome genes
P Peltomäki - Familial cancer, 2005 - Springer
Since the discovery of the major human genes with DNA mismatch repair (MMR) function in
1993--1995, mutations in four, MSH2, MLH1, MSH6, and PMS2, have been convincingly …
1993--1995, mutations in four, MSH2, MLH1, MSH6, and PMS2, have been convincingly …
Clues to the pathogenesis of familial colorectal cancer
LA Aaltonen, P Peltomäki, FS Leach, P Sistonen… - Science, 1993 - science.org
A predisposition to colorectal cancer is shown to be linked to markers on chromosome 2 in
some families. Molecular features of" familial" cancers were compared with those of sporadic …
some families. Molecular features of" familial" cancers were compared with those of sporadic …
[HTML][HTML] Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
FS Leach, NC Nicolaides, N Papadopoulos, B Liu… - Cell, 1993 - cell.com
Recent studies have shown that a locus responsible for hereditary nonpolyposis colorectal
cancer (HNPCC) is on chromosome 2p and that tumors developing in these patients contain …
cancer (HNPCC) is on chromosome 2p and that tumors developing in these patients contain …
Mutation of a mutL Homolog in Hereditary Colon Cancer
N Papadopoulos, NC Nicolaides, YF Wei, SM Ruben… - Science, 1994 - science.org
Some cases of hereditary nonpolyposis colorectal cancer (HNPCC) are due to alterations in
a mutS-related mismatch repair gene. A search of a large database of expressed sequence …
a mutS-related mismatch repair gene. A search of a large database of expressed sequence …
Aberrant CpG-island methylation has non-random and tumour-type–specific patterns
JF Costello, MC Frühwald, DJ Smiraglia, LJ Rush… - Nature …, 2000 - nature.com
CpG islands frequently contain gene promoters or exons 1 and are usually unmethylated in
normal cells 1, 2, 3. Methylation of CpG islands is associated with delayed replication …
normal cells 1, 2, 3. Methylation of CpG islands is associated with delayed replication …
Cancer risk in mutation carriers of DNA‐mismatch‐repair genes
M Aarnio, R Sankila, E Pukkala… - … journal of cancer, 1999 - Wiley Online Library
Excessive incidence of various cancers is a challenging feature of the hereditary‐non‐
polyposis‐colorectal‐cancer (HNPCC) syndrome. This study estimated the cancer …
polyposis‐colorectal‐cancer (HNPCC) syndrome. This study estimated the cancer …
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
HJ Järvinen, M Aarnio, H Mustonen, K Aktan–Collan… - Gastroenterology, 2000 - Elsevier
Background & Aims: Identification of the hereditary nonpolyposis colorectal cancer (HNPCC)
syndrome enables prevention of colorectal cancer (CRC) by means of colonoscopy and …
syndrome enables prevention of colorectal cancer (CRC) by means of colonoscopy and …
[HTML][HTML] Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
LA Aaltonen, R Salovaara, P Kristo… - … England Journal of …, 1998 - Mass Medical Soc
Background Genetic disorders that predispose people to colorectal cancer include the
polyposis syndromes and hereditary nonpolyposis colorectal cancer. In contrast to the …
polyposis syndromes and hereditary nonpolyposis colorectal cancer. In contrast to the …