Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications

scientific article

Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/SJ.EJHG.5201584
P698PubMed publication ID16479259
P5875ResearchGate publication ID7298285

P50authorAlbert de la ChapelleQ5618748
Riccardo FoddeQ40691036
P2093author name stringC Richard Boland
Henry T Lynch
Gordon Gong
Jane F Lynch
Patrick M Lynch
Trudy G Shaw
P2860cites workUbiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesisQ22122362
Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancerQ24614511
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instabilityQ24618618
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type XQ24618839
Genetic mapping of a locus predisposing to human colorectal cancerQ28268634
Microsatellite instability in cancer of the proximal colonQ29620692
Microsatellite instability in a pleomorphic rhabdomyosarcoma in a patient with hereditary non-polyposis colorectal cancerQ33188288
Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.Q33676566
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 geneQ33904639
Association of tumour site and sex with survival benefit from adjuvant chemotherapy in colorectal cancerQ33930691
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish populationQ34161196
Founding mutations and Alu-mediated recombination in hereditary colon cancerQ34297390
Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.Q34414061
Somatic acquisition and signaling of TGFBR1*6A in cancerQ34456847
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).Q34557362
Genetic testing for inherited colon cancerQ34557532
Lack of benefit of 5-fluorouracil-based adjuvant chemotherapy in colorectal cancer with microsatellite instabilityQ35025942
Recurrent germline mutation in MSH2 arises frequently de novoQ35435822
The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC)Q35447160
Proximal adenomas in hereditary non-polyposis colorectal cancer are prone to rapid malignant transformationQ35594413
Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumorsQ35748966
Genetic predisposition to colorectal cancerQ35930688
Colon cancer screening in 2005: status and challengesQ36123825
Competency in mismatch repair prohibits clonal expansion of cancer cells treated with N-methyl-N'-nitro-N-nitrosoguanidineQ37357197
Defective mismatch binding and a mutator phenotype in cells tolerant to DNA damageQ38320078
Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniquesQ38351153
Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancerQ38449001
Colorectal adenoma progression and genetic change: is there a link?Q40405126
Role of hMLH1 promoter hypermethylation in drug resistance to 5-fluorouracil in colorectal cancer cell lines.Q40582817
Cellular effects of CPT-11 on colon carcinoma cells: dependence on p53 and hMLH1 statusQ40706999
Mammalian cells defective in DNA mismatch correctionQ40707499
Prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancerQ40918327
Hypermutability and mismatch repair deficiency in RER+ tumor cellsQ41508298
Clues to the pathogenesis of familial colorectal cancerQ42622043
American founder mutation for Lynch syndrome. Prevalence estimates and implicationsQ43563170
Survival after adjuvant 5-FU treatment for stage III colon cancer in hereditary nonpolyposis colorectal cancer.Q44763095
Tobacco use and increased colorectal cancer risk in patients with hereditary nonpolyposis colorectal cancer (Lynch syndrome).Q45185739
Family information service and hereditary cancerQ46153942
TGFBR1*6A may contribute to hereditary colorectal cancerQ46463202
A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United StatesQ46655105
Unusual tumors associated with the hereditary nonpolyposis colorectal cancer syndromeQ47604676
Cumulative incidence of colorectal and extracolonic cancers in MLH1 and MSH2 mutation carriers of hereditary nonpolyposis colorectal cancerQ50854368
Hereditary proximal colonic cancerQ50945054
Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APCQ54559294
p53 polymorphism and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population.Q54702629
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.Q55033068
Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancerQ57200562
p53 Codon 72 and MDM2 SNP309 Polymorphisms and Age of Colorectal Cancer Onset in Lynch SyndromeQ57567770
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancerQ57567891
Incidence of Hereditary Nonpolyposis Colorectal Cancer and the Feasibility of Molecular Screening for the DiseaseQ57567959
Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutationQ57735554
A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: Meeting Highlights and Bethesda GuidelinesQ57978042
Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II). I. Clinical description of resourceQ62772420
Hereditary nonpolyposis colorectal cancer (lynch syndromes I and II). II. Biomarker studiesQ62772424
A 10-Mb paracentric inversion of chromosome arm 2p inactivatesMSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindredQ62977759
Progress in Genetic Testing, Classification, and Identification of Lynch SyndromeQ62978207
Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome)Q62978356
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)Q62978412
Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset.Q64964658
Is there a role for prophylactic subtotal colectomy among hereditary nonpolyposis colorectal cancer germline mutation carriers?Q71000854
Hereditary colorectal cancerQ73088287
Tumor microsatellite instability and clinical outcome in young patients with colorectal cancerQ73345126
Prostate cancer is part of the hereditary non-polyposis colorectal cancer (HNPCC) tumor spectrumQ73792103
Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinomaQ74046178
Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumorsQ77639637
Microsatellite alterations in various sarcomas in Japanese patientsQ77885941
Re: Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instabilityQ80563869
The family history--more important than everQ81059123
Molecular screening for the Lynch syndrome--better than family history?Q81716567
P433issue4
P921main subjectLynch syndromeQ783644
management implicationQ122759851
P304page(s)390-402
P577publication date2006-04-01
P13046publication type of scholarly workreview articleQ7318358
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titlePhenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications
P478volume14

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cites work (P2860)
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Q35799369Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome
Q34174654Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC).
Q62122325Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal
Q35269096Colorectal cancers with microsatellite instability display unique miRNA profiles.
Q34243496Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes
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Q36315747Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer
Q34610509Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model
Q33797266Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome
Q36951321Familial and genetic risk of transitional cell carcinoma of the urinary tract
Q92610418Frequent loss of mutation-specific mismatch repair protein expression in nonneoplastic endometrium of Lynch syndrome patients
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