Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non …
RC Niessen, MJW Berends, Y Wu, RH Sijmons… - Gut, 2006 - gut.bmj.com
Background: Patients with early-onset colorectal cancer (CRC) or those with multiple
tumours associated with hereditary non-polyposis colorectal cancer (HNPCC) raise …
tumours associated with hereditary non-polyposis colorectal cancer (HNPCC) raise …
Phenotype Comparison of MLH1 and MSH2 Mutation Carriers in a Cohort of 1,914 Individuals Undergoing Clinical Genetic Testing in the United States
F Kastrinos, EM Stoffel, J Balmana… - … Biomarkers & Prevention, 2008 - AACR
Abstract Background and Aims: Lynch syndrome is caused by germ-line mismatch repair
gene mutations. We examined the phenotypic differences between MLH1 and MSH2 gene …
gene mutations. We examined the phenotypic differences between MLH1 and MSH2 gene …
Histology of colorectal adenocarcinoma with double somatic mismatch-repair mutations is indistinguishable from those caused by Lynch syndrome
JA Hemminger, R Pearlman, S Haraldsdottir, D Knight… - Human pathology, 2018 - Elsevier
Lynch syndrome (LS) is the most common form of hereditary colon cancer. Germline
mutations in the mismatch-repair (MMR) genes MLH1, MSH2 (EPCAM), MSH6, and PMS2 …
mutations in the mismatch-repair (MMR) genes MLH1, MSH2 (EPCAM), MSH6, and PMS2 …
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer
G Casey, NM Lindor, N Papadopoulos, SN Thibodeau… - Jama, 2005 - jamanetwork.com
ContextThe accurate identification and interpretation of germline mutations in mismatch
repair genes in colorectal cancer cases is critical for clinical management. Current data …
repair genes in colorectal cancer cases is critical for clinical management. Current data …
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients
J Kantelinen, M Kansikas, S Candelin… - Human …, 2012 - Wiley Online Library
Mismatch repair (MMR) malfunction causes the accumulation of mismatches in the genome
leading to genomic instability and cancer. The inactivation of an MMR gene (MSH2, MSH6 …
leading to genomic instability and cancer. The inactivation of an MMR gene (MSH2, MSH6 …
Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients
Mismatch repair (MMR) genes are among of the most important genes associated with
colorectal cancer (CRC). Single-nucleotide polymorphisms (SNPs) are generally thought to …
colorectal cancer (CRC). Single-nucleotide polymorphisms (SNPs) are generally thought to …
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics
K Lagerstedt Robinson, T Liu… - Journal of the …, 2007 - academic.oup.com
Background Preventive programs for individuals who have high lifetime risks of colorectal
cancer may reduce disease morbidity and mortality. Thus, it is important to identify the …
cancer may reduce disease morbidity and mortality. Thus, it is important to identify the …
[HTML][HTML] Oncologic surveillance for subjects with biallelic mismatch repair gene mutations-10 year follow-up in a kindred
CA Durno, M Aronson, U Tabori, D Malkin… - Hereditary Cancer in …, 2011 - Springer
Background Lynch syndrome (LS) is caused by heterozygous germline mutations in the
DNA mismatch repair (MMR) genes and is a highly penetrant autosomal dominant condition …
DNA mismatch repair (MMR) genes and is a highly penetrant autosomal dominant condition …
Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome
WR Geurts‐Giele, EH Rosenberg… - … Genetics & Genomic …, 2019 - Wiley Online Library
Background Lynch syndrome (LS) is caused by germline mismatch repair (MMR) gene
mutations. De novo MMR gene mutations are rare, and somatic mosaicism in LS is thought …
mutations. De novo MMR gene mutations are rare, and somatic mosaicism in LS is thought …
[HTML][HTML] Genetics, diagnosis and treatment of Lynch syndrome: Old lessons and current challenges
F Duraturo, R Liccardo, M De Rosa… - Oncology …, 2019 - spandidos-publications.com
Lynch syndrome (LS) is an autosomal dominant genetic disorder associated with germline
mutations in DNA mismatch repair (MMR) genes. The carriers of pathogenic mutations in …
mutations in DNA mismatch repair (MMR) genes. The carriers of pathogenic mutations in …