NDLI: Missense mutations in hMLH1 associated with colorectal cancer

Please wait, while we are loading the content...

A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration

Genetic variation at the matrix metalloproteinase-9 locus on chromosome 20q12.2–13.1

Haplosufficiency of the melanocortin-4 receptor gene in individuals with deletions of 18q

Analysis of segregation and aneuploidy in two reciprocal translocation carriers, t(3;9)(q26.2;q32) and t(3;9)(p25;q32), by triple-color fluorescence in situ hybridization

Missense mutations in hMLH1 associated with colorectal cancer

Absence of the Δccr5 mutation in indigenous populations of the Brazilian Amazon

Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization

Complex patterns of intragenic polymorphism at the PDGFA locus

Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

Alström syndrome: further evidence for linkage to human chromosome 2p13

Preimplantation diagnosis of the β1 integrin knockout mutation as a model for aneuploid gene testing

Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients

Identification, mapping, and genomic structure of a novel X-chromosomal human gene (SMPX) encoding a small muscular protein

Haplotype-matched controls as a tool to discriminate polymorphisms from pathogenic mutations in mtDNA

Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene

Human Genetics : Volume 105, Issue 4, October 1999

Human Genetics : Volume 105, Issue 3, September 1999

Human Genetics : Volume 105, Issue 1-2, August 1999

Human Genetics : Volume 104

Human Genetics : Volume 103

Human Genetics : Volume 102

Human Genetics : Volume 101

Human Genetics : Volume 100

Human Genetics : Volume 99

Missense mutations in hMLH1 associated with colorectal cancer

Content Provider	Springer Nature Link
Author	Liu, T. Tannergård, P. Hackman, P. Rubio, C. Lindmark, G. Kressner, U. Hellgren, D. Lambert, B. Lindblom, A.
Copyright Year	1999
Abstract	One of the most prevalent hereditary syndromes associated with colorectal cancer is hereditary nonpolyposis colorectal cancer (HNPCC). The inherited gene defects in HNPCC have been shown to reside in DNA mismatch repair genes, mostly hMSH2 or hMLH1. Most HNPCC patients are heterozygous with regard to the relevant mismatch repair gene; they have one normal and one mutated allele, and mismatch repair in normal somatic cells is functional. Cancer predisposition in HNPCC is believed to be associated with the loss of the wild-type allele in somatic cells, resulting in defective DNA mismatch repair. This gives rise to DNA microsatellite instability (MSI), an increased somatic mutation rate, and eventually, to the accumulation of mutations in genes involved in colorectal carcinogenesis. In support of this theory, colorectal tumors in HNPCC patients and in mice deficient for hMSH2 or hMLH1 show MSI. Here, we describe two missense mutations in hMLH1 exon 16 associated with colorectal cancer. Interestingly, the tumors do not show MSI. This raises some potentially important issues. First, even microsatellite-negative colorectal tumors can be associated with germline mutations and these will be missed if an MSI test is used to select patients for mutation screening. Second, the lack of MSI in these cases suggests that the mechanism involved in carcinogenesis could be different from that generally hypothesized.
Starting Page	437
Ending Page	441
Page Count	5
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	105
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	1999-10-06
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients

Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer

Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue

Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

Missense mutations in the BMP15 gene are associated with ovarian failure

Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies

Missense mutations in hMLH 1 associated with colorectal cancer

Missense mutations in hMLH1 associated with colorectal cancer

Similar Documents

Two novel mutations in hMLH1 gene in Iranian hereditary non-polyposis colorectal cancer patients

Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer

Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue

Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

Missense mutations in the BMP15 gene are associated with ovarian failure

Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies

Missense mutations in hMLH 1 associated with colorectal cancer

Missense mutations in hMLH1 associated with colorectal cancer