Mutation deep within an intron of MSH2 causes Lynch syndrome.
about
Expanding the genetic basis of copy number variation in familial breast cancer.Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives.Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome.Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.Age distribution, polyps and rectal cancer in the Egyptian population-based cancer registry.Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expressionDetection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC).Role of pseudoexons and pseudointrons in human cancer.Deep intronic mutations and human disease.Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patientsElucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC)
P2860
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P2860
Mutation deep within an intron of MSH2 causes Lynch syndrome.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Mutation deep within an intron of MSH2 causes Lynch syndrome.
@ast
Mutation deep within an intron of MSH2 causes Lynch syndrome.
@en
type
label
Mutation deep within an intron of MSH2 causes Lynch syndrome.
@ast
Mutation deep within an intron of MSH2 causes Lynch syndrome.
@en
prefLabel
Mutation deep within an intron of MSH2 causes Lynch syndrome.
@ast
Mutation deep within an intron of MSH2 causes Lynch syndrome.
@en
P2093
P2860
P50
P1433
P1476
Mutation deep within an intron of MSH2 causes Lynch syndrome.
@en
P2093
Belinda Nagler
Joanne P Young
Mark Clendenning
Michael D Walsh
P2860
P2888
P304
P356
10.1007/S10689-011-9427-0
P577
2011-06-01T00:00:00Z