Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. (Q33677624)

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20 October 2019

title

Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation (English)

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20 October 2019

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6

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20 October 2019

author name string

P Hutter

1

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20 October 2019

A Couturier

2

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20 October 2019

R J Scott

3

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20 October 2019

P Alday

4

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20 October 2019

C Delozier-Blanchet

5

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20 October 2019

S E Antonarakis

7

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20 October 2019

F Joris

8

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20 October 2019

M Gaudin

9

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20 October 2019

L D'Amato

10

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20 October 2019

J M Buerstedde

11

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20 October 2019

language of work or name

English

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publication date

1 August 1996

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Journal of Medical Genetics

20 October 2019

published in

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20 October 2019

volume

33

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20 October 2019

issue

8

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20 October 2019

page(s)

636-640

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Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes

20 October 2019

cites work

1 reference

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

21 June 2018

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Microsatellite instability in cancer of the proximal colon

21 June 2018

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Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review

21 June 2018

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Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair

21 June 2018

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Hypermutability and mismatch repair deficiency in RER tumor cells

21 June 2018

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Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

21 June 2018

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

21 June 2018

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Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer

21 June 2018

1 reference

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Mutation of a mutL homolog in hereditary colon cancer

21 June 2018

1 reference

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Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

21 June 2018

1 reference

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MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeast

21 June 2018

1 reference

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hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds

21 June 2018

1 reference

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Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families

21 June 2018

1 reference

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Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs

21 June 2018

1 reference

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Mismatch repair, genetic stability, and cancer

21 June 2018

1 reference

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Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability

21 June 2018

1 reference

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Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050695

Mismatch Repair Deficiency in Phenotypically Normal Human Cells

21 June 2018

1 reference

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Genetic instability occurs in the majority of young patients with colorectal cancer

21 June 2018

1 reference

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Familial cancer syndrome studies in 4 generations of a family

21 June 2018

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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.

21 June 2018

1 reference

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Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC)

30 October 2018

1 reference

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Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability

30 October 2018

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12 December 2020

Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer

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12 December 2020

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)

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12 December 2020

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

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12 December 2020

A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden

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12 December 2020

Identifiers

DOI

10.1136/JMG.33.8.636

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8863153 AND SRC:MED&resulttype=core&format=json

20 October 2019

1 reference

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20 October 2019

PubMed publication ID

8863153

1 reference