An intronic mutation in MLH1 associated with familial colon and breast cancer. (Q34565224)

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10 February 2020

title

An intronic mutation in MLH1 associated with familial colon and breast cancer (English)

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10 February 2020

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10 February 2020

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10 February 2020

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10 February 2020

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10 February 2020

F Bianchi

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10 February 2020

M Raponi

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10 February 2020

I Bearzi

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10 February 2020

E Galizia

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10 February 2020

R Bracci

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10 February 2020

L Belvederesi

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10 February 2020

C Brugiati

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10 February 2020

F Corradini

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10 February 2020

R Cellerino

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10 February 2020

publication date

1 March 2011

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10 February 2020

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10 February 2020

volume

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10 February 2020

issue

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10 February 2020

page(s)

27-35

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Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry

10 February 2020

cites work

1 reference

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CAT25 is a mononucleotide marker to identify HNPCC patients

7 July 2018

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Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

7 July 2018

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ASD: a bioinformatics resource on alternative splicing

7 July 2018

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Characterization and prediction of alternative splice sites

7 July 2018

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Hereditary colorectal cancer syndromes

7 July 2018

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Hereditary colorectal cancer-part II.

7 July 2018

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Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.

7 July 2018

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Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment

7 July 2018

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Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database

7 July 2018

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Genetic predisposition to colorectal cancer

7 July 2018

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ESEfinder: A web resource to identify exonic splicing enhancers

7 July 2018

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Role of DNA mismatch repair defects in the pathogenesis of human cancer

7 July 2018

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Predictive identification of exonic splicing enhancers in human genes

7 July 2018

1 reference

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A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer

7 July 2018

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Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility

7 July 2018

1 reference

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Improved Splice Site Detection in Genie

7 July 2018

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Analysis of donor splice sites in different eukaryotic organisms

7 July 2018

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RNA-based mutation screening in hereditary nonpolyposis colorectal cancer

7 July 2018

1 reference

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Prediction of human mRNA donor and acceptor sites from the DNA sequence

7 July 2018

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SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans.

7 July 2018

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Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations

21 January 2018

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Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.

21 January 2018

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Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system

21 January 2018

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Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

21 January 2018

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Alternative splicing of MLH1 messenger RNA in human normal cells.

21 January 2018

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Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing

27 October 2018

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12 December 2020

Hereditary colorectal cancer

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12 December 2020

A truncated hMSH2 transcript occurs as a common variant in the population: implications for genetic diagnosis

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12 December 2020

Immunohistochemistry for hMLH1 and hMSH2: a practical test for DNA mismatch repair-deficient tumors

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12 December 2020

Breast cancer immunohistochemistry can be useful in triage of some HNPCC families

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12 December 2020

A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy

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12 December 2020

Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression

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12 December 2020

10.1007/S10689-010-9371-4

Identifiers

DOI

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Dimensions Publication ID

10 February 2020

0 references

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10 February 2020

PubMed publication ID

20717847

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