Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications - Wikidata - awgldk - TriplyDB

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

http://www.wikidata.org/entity/Q24610838

about

Current hypotheses on how microsatellite instability leads to enhanced survival of Lynch Syndrome patients EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease Genetic risks and familial associations of small bowel carcinoma Colorectal cancer in the young, many questions, few answers Cutaneous manifestation of gastrointestinal disease Tumor-specific microsatellite instability: do distinct mechanisms underlie the MSI-L and EMAST phenotypes?Observational Study: Familial Relevance and Oncological Significance of Revised Bethesda Guidelines in Colorectal Patients That Have Undergone Curative Resection Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site Postreplicative mismatch repair.A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine DNA replication fidelity and cancer DNA replication error-induced extinction of diploid yeast New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis Normally lethal amino acid substitutions suppress an ultramutator DNA Polymerase δ variant Defective mismatch repair, microsatellite mutation bias, and variability in clinical cancer phenotypes Gastrointestinal tract cancers: Genetics, heritability and germ line mutations Universal molecular screening does not effectively detect Lynch syndrome in clinical practice Mutations in TGFbeta-RII and BAX mediate tumor progression in the later stages of colorectal cancer with microsatellite instability.Poly (ADP-ribose) polymerase inhibitor: an evolving paradigm in the treatment of prostate cancer.Schizosaccharomyces pombe MutSα and MutLα Maintain Stability of Tetra-Nucleotide Repeats and Msh3 of Hepta-Nucleotide Repeats.Simplified microsatellite instability detection protocol provides equivalent sensitivity to robust detection strategies in Lynch syndrome patients.Genetic and Chemical Models of Colorectal Cancer in Mice.Predictive model for high-frequency microsatellite instability in colorectal cancer patients over 50 years of age.Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis.Hereditary pancreatic cancer: related syndromes and clinical perspective.Colorectal cancer: molecular features and clinical opportunities Oral manifestations of hereditary nonpolyposis colorectal cancer syndrome: a family case series.Familial colorectal cancer: eleven years of data from a registry program in Switzerland.Identification of two poorly prognosed ovarian carcinoma subtypes associated with CHEK2 germ-line mutation and non-CHEK2 somatic mutation gene signatures.Clinical relevance of microsatellite instability in colorectal cancer.Genetic predisposition to colorectal cancer: where we stand and future perspectives MyD88-mediated signaling prevents development of adenocarcinomas of the colon: role of interleukin 18 A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.Human pluripotent stem cells have a novel mismatch repair-dependent damage response."The cancer bond": exploring the formation of cancer risk perception in families with Lynch syndrome.TGFBR1 intralocus epistatic interaction as a risk factor for colorectal cancer.Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.Allele-specific expression of TGFBR1 in colon cancer patients.Analysis of microsatellite variation in Drosophila melanogaster with population-scale genome sequencing

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Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

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C L Snyder

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C R Boland

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H T Lynch

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J F Lynch

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P M Lynch

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S J Lanspa

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P2860

Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability

Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

Mutation of a mutL homolog in hereditary colon cancer

hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds

The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

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