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Msh2-Lynch

ABSTRACT: Msh2-Lynch

PROVIDER: PRJEB45308 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	ERR7249260_1.fastq.gz	Fastqsanger.gz
	ERR7249260_2.fastq.gz	Fastqsanger.gz
	ERR7249270_1.fastq.gz	Fastqsanger.gz
	ERR7249270_2.fastq.gz	Fastqsanger.gz
	ERR7249280_1.fastq.gz	Fastqsanger.gz

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Massively parallel functional testing of MSH2 missense variants conferring Lynch Syndrome risk

Project description:Massively parallel functional testing of MSH2 missense variants conferring Lynch Syndrome risk

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Massively parallel functional testing of MSH2 missense variants conferring Lynch Syndrome risk

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Burkholderia sp. MSh2

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The MLH1 c.-27C>A and c.85G>T variants are borne on a European ancestral haplotype which underlies an autosomal dominant form of MLH1 epimutation.

Project description:Lynch syndrome, caused by germline heterozygous mutations of the DNA mismatch repair genes MLH1, MSH2, MSH6 and PMS2, or deletions affecting the EPCAM gene upstream of MSH2, is characterized by a predisposition to early-onset colorectal and additional extracolonic cancers. An alternative but rare cause of Lynch syndrome is a constitutional epimutation of MLH1, which is characterized by promoter methylation and transcriptional silencing of a single allele in normal tissues. Worldwide, five families with autosomal dominant transmission of a constitutional MLH1 epimutation linked to an MLH1 haplotype with two single nucleotide variants (c.-27C>A and c.85G>T) have been identified. Array-based genotyping using Affymetrix SNP 6.0 data in four of these families revealed a shared haplotype extending across a ≤2.6 Mb region of chromosome 3p22 encompassing MLH1 and additional flanking genes, indicating common ancestry.

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