Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation.

scientific article

Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/JMG.33.8.636
P932PMC publication ID1050695
P698PubMed publication ID8863153
P5875ResearchGate publication ID14343931

P50authorFrancois CachatQ46036828
P2093author name stringS E Antonarakis
J M Buerstedde
R J Scott
P Hutter
A Couturier
L D'Amato
M Gaudin
F Joris
P Alday
C Delozier-Blanchet
P2860cites workUbiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesisQ22122362
Mutations of two PMS homologues in hereditary nonpolyposis colon cancerQ24318484
Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instabilityQ24319995
Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresisQ24671692
Mutation of a mutL homolog in hereditary colon cancerQ28114939
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindredsQ28246692
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancerQ28256988
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancerQ28257360
Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repairQ29618879
Microsatellite instability in cancer of the proximal colonQ29620692
Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genesQ33682850
Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologsQ34554581
Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer familiesQ35550036
Genetic instability occurs in the majority of young patients with colorectal cancerQ38297232
Familial cancer syndrome studies in 4 generations of a familyQ40086962
Mismatch repair, genetic stability, and cancerQ40556409
Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated reviewQ40901949
Mismatch Repair Deficiency in Phenotypically Normal Human CellsQ41347026
Hypermutability and mismatch repair deficiency in RER+ tumor cellsQ41508298
MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeastQ42427955
Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC)Q48075190
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancerQ48084125
Tumour spectrum in hereditary non-polyposis colorectal cancer (HNPCC) and in families with "suspected HNPCC". A population-based study in northern Italy. Colorectal Cancer Study Group.Q53389780
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)Q62978412
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instabilityQ72127255
Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancerQ72189498
A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burdenQ72374029
Protein truncation test (PTT) for rapid detection of translation-terminating mutationsQ72676656
P433issue8
P407language of work or nameEnglishQ1860
P921main subjectLynch syndromeQ783644
P304page(s)636-640
P577publication date1996-08-01
P1433published inJournal of Medical GeneticsQ14640281
P1476titleComplex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation
P478volume33

Reverse relations

cites work (P2860)
Q73229870A polymorphism in the ATM gene modulates the penetrance of hereditary non-polyposis colorectal cancer
Q35925149Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study
Q57251887DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2
Q34568596DNA mismatch repair defects: role in colorectal carcinogenesis
Q77619057Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer
Q34583807Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC).
Q35930688Genetic predisposition to colorectal cancer
Q35597944Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer
Q79098523Hereditary nonpolyposis colorectal cancer and related conditions
Q35868041Highly penetrant hereditary cancer syndromes.
Q33909800MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population
Q38262826Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Q42616545Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management
Q33343083The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population
Q34161196The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population
Q35559695Two common forms of the human MLH1 gene may be associated with functional differences
Q44470300hMLH1, hMSH2 and hMSH6 mutations in hereditary non-polyposis colorectal cancer families from southern Sweden

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