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 …

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 …

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 …

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 …

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 …

Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients

Q Mei, HL Yan, FX Ding, G Xue, JJ Huang… - Cancer genetics and …, 2006 - Elsevier
Mismatch repair (MMR) genes are among of the most important genes associated with
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 …

[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 …

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 …

[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 …