The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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name

The MSH2 c.388_389del mutation ...... guese Lynch syndrome families.

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The MSH2 c.388_389del mutation ...... guese Lynch syndrome families.

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type

Item

label

The MSH2 c.388_389del mutation ...... guese Lynch syndrome families.

@en

The MSH2 c.388_389del mutation ...... guese Lynch syndrome families.

@nl

prefLabel

The MSH2 c.388_389del mutation ...... guese Lynch syndrome families.

@en

The MSH2 c.388_389del mutation ...... guese Lynch syndrome families.

@nl

P1476

The MSH2 c.388_389del mutation ...... guese Lynch syndrome families.

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P2093

B Mesquita

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C Marinho

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E Mangold

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L M Dias

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M Baptista

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M Fragoso

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O Sousa

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P Lopes

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S Farrington

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P2860

Colorectal carcinomas with microsatellite instability display a different pattern of target gene mutations according to large bowel site of origin.

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 gene.

De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer.

The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population.

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.

Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry.

Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.

Estimating divergence time with the use of microsatellite genetic distances: impacts of population growth and gene flow.

Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene.

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

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244-250

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scholarly article

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10.1111/CGE.12062

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P433

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P478

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Carlos Alberto Vaccaro

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2012-12-27T00:00:00Z

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23170986

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