(Q38864485)

English

Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination

scientific article published on 16 September 2008

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scholarly article

1 reference

Europe PubMed Central

7 September 2017

Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination (English)

1 reference

Europe PubMed Central

7 September 2017

1 reference

based on heuristic

inferred from title

Marie-Pierre Buisine

10

object named as

Marie-Pierre Buisine

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author name string

Sana Aissi-Ben Moussa

1

1 reference

Europe PubMed Central

7 September 2017

Amel Moussa

2

1 reference

Europe PubMed Central

7 September 2017

Tonio Lovecchio

3

1 reference

Europe PubMed Central

7 September 2017

Nadia Kourda

4

1 reference

Europe PubMed Central

7 September 2017

Taoufik Najjar

5

1 reference

Europe PubMed Central

7 September 2017

Sarra Ben Jilani

6

1 reference

Europe PubMed Central

7 September 2017

Amel El Gaaied

7

1 reference

Europe PubMed Central

7 September 2017

Nicole Porchet

8

1 reference

Europe PubMed Central

7 September 2017

Mohamed Manai

9

1 reference

Europe PubMed Central

7 September 2017

publication date

16 September 2008

1 reference

Europe PubMed Central

7 September 2017

Familial Cancer

1 reference

Europe PubMed Central

7 September 2017

8

1 reference

Europe PubMed Central

7 September 2017

2

1 reference

Europe PubMed Central

7 September 2017

119-126

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Europe PubMed Central

7 September 2017

https://scigraph.springernature.com/pub.10.1007/s10689-008-9215-7

0 references

Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease.

1 reference

https://api.crossref.org/works/10.1007%2FS10689-008-9215-7

21 January 2018

Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers

1 reference

https://api.crossref.org/works/10.1007%2FS10689-008-9215-7

21 January 2018

History and molecular genetics of Lynch syndrome in family G: a century later

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Significant contribution of germline BRCA2 rearrangements in male breast cancer families

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification et prise en charge du syndrome HNPCC (hereditary non polyposis colon cancer). Prédisposition héréditaire aux cancers du côlon, du rectum et de l'utérus

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Population-based molecular detection of hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Semiautomated assessment of loss of heterozygosity and replication error in tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular models for the tissue specificity of DNA mismatch repair-deficient carcinogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Founding mutations and Alu-mediated recombination in hereditary colon cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary cancer, oncogenes, and antioncogenes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome maintenance mechanisms for preventing cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/18792805

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10689-008-9215-7

1 reference

Europe PubMed Central

7 September 2017

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0 references

1 reference

Europe PubMed Central

7 September 2017

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